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NM_001134707.2(SARDH):c.1442G>A (p.Arg481His) AND Sarcosine dehydrogenase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 20, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003447749.1

Allele description [Variation Report for NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)]

NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)

Gene:
SARDH:sarcosine dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.2
Genomic location:
Preferred name:
NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)
HGVS:
  • NC_000009.12:g.133708315C>T
  • NG_008987.1:g.36641G>A
  • NG_008987.2:g.36640G>A
  • NM_001134707.2:c.1442G>AMANE SELECT
  • NM_007101.4:c.1442G>A
  • NP_001128179.1:p.Arg481His
  • NP_009032.2:p.Arg481His
  • NC_000009.11:g.136573437C>T
Protein change:
R481H
Molecular consequence:
  • NM_001134707.2:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007101.4:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sarcosine dehydrogenase deficiency (SAR)
Synonyms:
SARD DEFICIENCY; Sarcosinemia; Sarcosin dehydrogenase complex, deficiency of; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010008; MedGen: C0268563; Orphanet: 3129; OMIM: 268900; Human Phenotype Ontology: HP:0010896

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004175446Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 20, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetics and Molecular Pathology, SA Pathology, SCV004175446.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The SARDH c.1442G>A variant is classified as VUS (PM3_supporting, PP3, PP4). The SARDH c.1442G>A variant is a single nucleotide change in exon 11/21 of the SARDH gene, which is predicted to change the amino acid arginine at position 481 in the protein to histidine. This variant is homozygous in this patient (PM3_supporting). Computational predictions support a deleterious effect on the gene or gene product (PP3). This variant has been reported in dbSNP (rs35699831) and in GnomAD (highest MAF: 0.15%). It has not been reported in ClinVar, HGMD or LOVD. The variant has not been reported in the scientific literature to date. This patient's phenotype is specific for a variant in the SARDH gene (PP4).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 17, 2023