ClinVar Genomic variation as it relates to human health
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
Variation ID: 8176 Accession: VCV000008176.45
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 5q33.3 5: 156595000 (GRCh38) [ NCBI UCSC ] 5: 156022010 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 5, 2015 Apr 15, 2024 Jun 8, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000337.6:c.451T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000328.2:p.Ser151Ala missense NM_001128209.2:c.448T>G NP_001121681.1:p.Ser150Ala missense NM_172244.3:c.451T>G NP_758447.1:p.Ser151Ala missense NC_000005.10:g.156595000T>G NC_000005.9:g.156022010T>G NG_008693.2:g.729657T>G LRG_205:g.729657T>G LRG_205t1:c.451T>G LRG_205p1:p.Ser151Ala - Protein change
- S151A, S150A
- Other names
- rs121909298
- Canonical SPDI
- NC_000005.10:156594999:T:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00011
The Genome Aggregation Database (gnomAD) 0.00012
The Genome Aggregation Database (gnomAD), exomes 0.00020
Exome Aggregation Consortium (ExAC) 0.00026
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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SGCD | - | - |
GRCh38 GRCh37 |
746 | 763 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
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Feb 8, 2023 | RCV000008654.10 | |
Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Feb 17, 2022 | RCV000041407.13 | |
Pathogenic (1) |
no assertion criteria provided
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Jan 1, 2014 | RCV000681610.3 | |
Uncertain significance (4) |
criteria provided, multiple submitters, no conflicts
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Jun 8, 2023 | RCV000725810.25 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
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Feb 8, 2023 | RCV000548096.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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May 17, 2022 | RCV002490339.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(May 13, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001793957.1
First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
Comment:
Reported in association with both DCM and segregated with disease in three individuals from one family (Tsubata et al., 2000) and reported in a patient … (more)
Reported in association with both DCM and segregated with disease in three individuals from one family (Tsubata et al., 2000) and reported in a patient with LGMD who also harbored a partial duplication of exon 1 in the SGCB gene (Trabelsi et al., 2008); Functional studies demonstrate that this variant may result in improper trafficking to the cellular membrane (Soheili et al., 2012); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 8176; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30564623, 28401079, 19771157, 14564412, 10974018, 16432241, 23695275, 19259135, 18285821, 17164264, 22095924, 31019283) (less)
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Uncertain significance
(May 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2F
Dilated cardiomyopathy 1L
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002788234.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Uncertain significance
(Oct 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2F
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000638174.7
First in ClinVar: Dec 26, 2017 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 151 of the SGCD protein (p.Ser151Ala). … (more)
This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 151 of the SGCD protein (p.Ser151Ala). This variant is present in population databases (rs121909298, gnomAD 0.06%). This missense change has been observed in individual(s) with early onset dilated cardiomyopathy and/or SGCD-related conditions (PMID: 10974018, 19259135). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8176). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SGCD protein function. Experimental studies have shown that this missense change affects SGCD function (PMID: 16432241, 17164264, 19771157, 22095924, 23695275). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(Jan 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001247866.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 1
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Uncertain significance
(Apr 04, 2017)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
Accession: SCV000740670.1
First in ClinVar: Apr 03, 2017 Last updated: Apr 03, 2017 |
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Uncertain significance
(Feb 09, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000339546.3
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
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Uncertain significance
(Nov 21, 2018)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1L
Affected status: unknown
Allele origin:
unknown
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Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV000883104.1
First in ClinVar: Sep 28, 2018 Last updated: Sep 28, 2018 |
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Uncertain significance
(Feb 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623286.2
First in ClinVar: May 23, 2021 Last updated: Mar 12, 2022 |
Comment:
Variant summary: SGCD c.451T>G (p.Ser151Ala) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Variant summary: SGCD c.451T>G (p.Ser151Ala) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0002 in 248134 control chromosomes. The observed variant frequency is approximately 13 fold of the estimated maximal expected allele frequency for a pathogenic variant in SGCD causing Dilated Cardiomyopathy phenotype (1.6e-05), suggesting that the variant may not be pathogenic. c.451T>G has been reported in the literature in families affected with dilated cardiomyopathy (Tsubata_2000, Pugh_2014), limb girdle muscular dystrophies (Trabelsi_2008, Bauer_2009) or Sudden Arrhythmic Death Syndrome (Nunn_2016). However, conflicting co-segregation evidence were found in two studies (Tsubata_2000, Bauer_2009). Therefore, these reports do not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy or other cardiovascular conditions. Transgenic Drosophila with p.S151A had marked impairment of systolic function and significantly enlarged cardiac chambers (Wolf_2006). Transgenic mice with p.S151A developed dilated cardiomyopathy or mild cardiomyopathy (Heydemann_2007, Rutschow_2014). Other functional studies have shown the variant leads to defective intracellular trafficking of the protein (Soheili_2011). Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS. (less)
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Uncertain significance
(Feb 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Autosomal recessive limb-girdle muscular dystrophy type 2F
Affected status: unknown
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV003931847.1
First in ClinVar: Jun 17, 2023 Last updated: Jun 17, 2023 |
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Uncertain significance
(Feb 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1L
Affected status: unknown
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV003931848.1
First in ClinVar: Jun 17, 2023 Last updated: Jun 17, 2023 |
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Uncertain significance
(Jun 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV003819898.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Uncertain significance
(Jul 17, 2014)
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no assertion criteria provided
Method: research
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Cardiomyopathy, dilated, 1L
Affected status: yes
Allele origin:
maternal
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Division of Human Genetics, Children's Hospital of Philadelphia
Study: CSER-PediSeq
Accession: SCV000238412.1 First in ClinVar: Jul 05, 2015 Last updated: Jul 05, 2015 |
Comment:
This test identified a missense variant (c.451T>G; p.Ser151Ala) in the SGCD gene, which is associated with dilated cardiomyopathy 1L (autosomal dominant) and limb girdle muscular … (more)
This test identified a missense variant (c.451T>G; p.Ser151Ala) in the SGCD gene, which is associated with dilated cardiomyopathy 1L (autosomal dominant) and limb girdle muscular dystrophy type 2F (autosomal recessive). This variant was found in two families tested for dilated cardiomyopathy and limb girdle muscular dyatrophy (Tsubata et al. 2000, PMID: 10974018; Trabelsi et al. 2008, PMID: 18285821). Functional analysis suggests that this variant may be associated with dilated cardiomyopathy (Heydemann et al. 2007, PMID: 17164264) or "a mild, subclinical phenotype of cardiomyopathy" (Rutschow et al. 2014, PMID: 23695275), but a previous report found this variant to be present in individuals unaffected with dilated cardiomyopathy (Bauer et al. 2009, PMID: 19259135). Due to lack of clear association of the gene and variant with dilated cardiomyopathy, c.451T>C; p.Ser151Ala is considered a variant of unknown significance. This variant was inherited from the affected mother with Long QT syndome and also observed in the proband’s older brother. This variant was not observed in the younger brother and maternal grandmother. In this family, the variant did not segregate with disease, making it less likely to be associated with the cardiac findings. (less)
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Uncertain significance
(Nov 03, 2009)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000065102.5
First in ClinVar: May 03, 2013 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
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Pathogenic
(Jan 01, 2014)
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no assertion criteria provided
Method: literature only
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CARDIOMYOPATHY, DILATED, 1L
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000028863.5
First in ClinVar: Apr 04, 2013 Last updated: Dec 02, 2023 |
Comment on evidence:
Dilated Cardiomyopathy 1L Tsubata et al. (2000) identified a heterozygous 451T-G transversion in exon 6 of the SGCD gene, resulting in a ser151-to-ala (S151A) substitution, … (more)
Dilated Cardiomyopathy 1L Tsubata et al. (2000) identified a heterozygous 451T-G transversion in exon 6 of the SGCD gene, resulting in a ser151-to-ala (S151A) substitution, in a family with dilated cardiomyopathy (CMD1L; 606685) in 3 generations. The grandfather died suddenly with congestive heart failure at the age of 38 years. Two daughters died suddenly with congestive heart failure at ages 14 years and 36 years. The second of these daughters had 2 sons, 1 of whom died suddenly at age 17 with congestive heart failure, whereas the other underwent cardiac transplantation at the age of 21 years. The S151A mutation was not detected in 200 controls. Limb-Girdle Muscular Dystrophy, Autosomal Recessive 6, Digenic Trabelsi et al. (2008) identified a heterozygous S151A mutation in a patient with autosomal recessive limb-girdle muscular dystrophy (LGMDR6; 601287). He was also found to carry a heterozygous partial duplication of exon 1 of the SGCB gene (600900), which is responsible for LGMD2E (LGMDR4; 604286), although the consequence of the variant on SGCB production was unknown. However, Trabelsi et al. (2008) suggested that this patient had 'double heterozygosity,' or digenic inheritance. The patient showed muscle weakness at age 3 years, complicated by cardiomyopathy at age 13 years. In a consanguineous family of Arab origin, in which homozygosity for an A131P mutation (601411.0007) in the SGCD gene had been identified in 3 sibs with LGMD2F, Bauer et al. (2009) also identified heterozygosity for the S151A mutation in 7 unaffected family members, 4 of whom were compound heterozygous for the S151A and A131P mutations. Comprehensive clinical and cardiac investigation in all of the compound heterozygous family members revealed no signs of cardiomyopathy or limb-girdle muscular dystrophy. Bauer et al. (2009) questioned the pathologic relevance of the S151A variant, and of the SGCD gene itself, in dilated cardiomyopathy. Mouse Model Heydemann et al. (2007) developed several lines of transgenic mice that overexpressed human SGCD with the S151A mutation specifically in heart. All transgenic mouse lines demonstrated elevated prenatal or perinatal lethality, and surviving animals suffered cardiomyopathy and sudden death at a young age. Nontransgenic control mice expressed wildtype Sgcd only at the cardiomyocyte plasma membrane. However, S151A-SGCD transgenic mice expressed mutant SGCD in cardiomyocyte nuclei and showed partial nuclear mislocalization of other sarcoglycan subunits. In addition, lamin A/C (LMNA; 150330) and emerin (EMD; 300384) mislocalized from the nuclear periphery and nuclear membrane, respectively, to a more generalized nuclear distribution in close proximity to mutant SGCD. Heydemann et al. (2007) concluded that the S151A mutation acts in a dominant-negative manner to produce protein trafficking defects that disrupt nuclear localization of lamin A/C, emerin, and plasma membrane sarcoglycan. By homologous recombination, Rutschow et al. (2014) generated a knockin mouse model of the Sgcd S151A mutation. TaqMan assay demonstrated that the mutant allele was expressed at approximately 4% of wildtype allele. Heterozygous S151A knockin mice developed a rather mild cardiomyopathy phenotype, with a slight but significant increase in heart-to-body-weight ratio suggesting mild cardiac enlargement. In physical stress testing, mutant mice showed significantly reduced cumulative running distance compared to wildtype but had preserved myocardial contractility, absence of histopathologic alterations, and normal life expectancy. Myocardial expression of S151A restored cardiac function in Sgcd-null mice, but unlike wildtype Sgcd, it did not completely prevent histopathologic changes. Rutschow et al. (2014) concluded that the S151A mutation causes a mild, subclinical cardiomyopathy phenotype that might be overlooked in patients carrying the variant. (less)
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Pathogenic
(Jan 01, 2014)
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no assertion criteria provided
Method: literature only
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MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000809050.2
First in ClinVar: Sep 29, 2018 Last updated: Dec 02, 2023 |
Comment on evidence:
Dilated Cardiomyopathy 1L Tsubata et al. (2000) identified a heterozygous 451T-G transversion in exon 6 of the SGCD gene, resulting in a ser151-to-ala (S151A) substitution, … (more)
Dilated Cardiomyopathy 1L Tsubata et al. (2000) identified a heterozygous 451T-G transversion in exon 6 of the SGCD gene, resulting in a ser151-to-ala (S151A) substitution, in a family with dilated cardiomyopathy (CMD1L; 606685) in 3 generations. The grandfather died suddenly with congestive heart failure at the age of 38 years. Two daughters died suddenly with congestive heart failure at ages 14 years and 36 years. The second of these daughters had 2 sons, 1 of whom died suddenly at age 17 with congestive heart failure, whereas the other underwent cardiac transplantation at the age of 21 years. The S151A mutation was not detected in 200 controls. Limb-Girdle Muscular Dystrophy, Autosomal Recessive 6, Digenic Trabelsi et al. (2008) identified a heterozygous S151A mutation in a patient with autosomal recessive limb-girdle muscular dystrophy (LGMDR6; 601287). He was also found to carry a heterozygous partial duplication of exon 1 of the SGCB gene (600900), which is responsible for LGMD2E (LGMDR4; 604286), although the consequence of the variant on SGCB production was unknown. However, Trabelsi et al. (2008) suggested that this patient had 'double heterozygosity,' or digenic inheritance. The patient showed muscle weakness at age 3 years, complicated by cardiomyopathy at age 13 years. In a consanguineous family of Arab origin, in which homozygosity for an A131P mutation (601411.0007) in the SGCD gene had been identified in 3 sibs with LGMD2F, Bauer et al. (2009) also identified heterozygosity for the S151A mutation in 7 unaffected family members, 4 of whom were compound heterozygous for the S151A and A131P mutations. Comprehensive clinical and cardiac investigation in all of the compound heterozygous family members revealed no signs of cardiomyopathy or limb-girdle muscular dystrophy. Bauer et al. (2009) questioned the pathologic relevance of the S151A variant, and of the SGCD gene itself, in dilated cardiomyopathy. Mouse Model Heydemann et al. (2007) developed several lines of transgenic mice that overexpressed human SGCD with the S151A mutation specifically in heart. All transgenic mouse lines demonstrated elevated prenatal or perinatal lethality, and surviving animals suffered cardiomyopathy and sudden death at a young age. Nontransgenic control mice expressed wildtype Sgcd only at the cardiomyocyte plasma membrane. However, S151A-SGCD transgenic mice expressed mutant SGCD in cardiomyocyte nuclei and showed partial nuclear mislocalization of other sarcoglycan subunits. In addition, lamin A/C (LMNA; 150330) and emerin (EMD; 300384) mislocalized from the nuclear periphery and nuclear membrane, respectively, to a more generalized nuclear distribution in close proximity to mutant SGCD. Heydemann et al. (2007) concluded that the S151A mutation acts in a dominant-negative manner to produce protein trafficking defects that disrupt nuclear localization of lamin A/C, emerin, and plasma membrane sarcoglycan. By homologous recombination, Rutschow et al. (2014) generated a knockin mouse model of the Sgcd S151A mutation. TaqMan assay demonstrated that the mutant allele was expressed at approximately 4% of wildtype allele. Heterozygous S151A knockin mice developed a rather mild cardiomyopathy phenotype, with a slight but significant increase in heart-to-body-weight ratio suggesting mild cardiac enlargement. In physical stress testing, mutant mice showed significantly reduced cumulative running distance compared to wildtype but had preserved myocardial contractility, absence of histopathologic alterations, and normal life expectancy. Myocardial expression of S151A restored cardiac function in Sgcd-null mice, but unlike wildtype Sgcd, it did not completely prevent histopathologic changes. Rutschow et al. (2014) concluded that the S151A mutation causes a mild, subclinical cardiomyopathy phenotype that might be overlooked in patients carrying the variant. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. | Thauvin-Robinet C | European journal of human genetics : EJHG | 2019 | PMID: 31019283 |
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing. | Nunn LM | Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology | 2016 | PMID: 26498160 |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. | Pugh TJ | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 24503780 |
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. | Rutschow D | European journal of human genetics : EJHG | 2014 | PMID: 23695275 |
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. | Soheili T | Human mutation | 2012 | PMID: 22095924 |
Serial examination of an inducible and reversible dilated cardiomyopathy in individual adult Drosophila. | Kim IM | PloS one | 2009 | PMID: 19771157 |
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist? | Bauer R | European journal of human genetics : EJHG | 2009 | PMID: 19259135 |
Revised spectrum of mutations in sarcoglycanopathies. | Trabelsi M | European journal of human genetics : EJHG | 2008 | PMID: 18285821 |
Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. | Heydemann A | Human molecular genetics | 2007 | PMID: 17164264 |
Drosophila as a model for the identification of genes causing adult human heart disease. | Wolf MJ | Proceedings of the National Academy of Sciences of the United States of America | 2006 | PMID: 16432241 |
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy. | Kärkkäinen S | Journal of molecular medicine (Berlin, Germany) | 2003 | PMID: 14564412 |
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. | Tsubata S | The Journal of clinical investigation | 2000 | PMID: 10974018 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SGCD | - | - | - | - |
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Text-mined citations for rs121909298 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.