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NM_014000.3(VCL):c.1814C>G (p.Pro605Arg) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 9, 2022
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:
RCV003227787.1

Allele description [Variation Report for NM_014000.3(VCL):c.1814C>G (p.Pro605Arg)]

NM_014000.3(VCL):c.1814C>G (p.Pro605Arg)

Gene:
VCL:vinculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_014000.3(VCL):c.1814C>G (p.Pro605Arg)
HGVS:
  • NC_000010.11:g.74097274C>G
  • NG_008868.1:g.104161C>G
  • NM_003373.4:c.1814C>G
  • NM_014000.3:c.1814C>GMANE SELECT
  • NP_003364.1:p.Pro605Arg
  • NP_054706.1:p.Pro605Arg
  • NP_054706.1:p.Pro605Arg
  • LRG_383t1:c.1814C>G
  • LRG_383:g.104161C>G
  • LRG_383p1:p.Pro605Arg
  • NC_000010.10:g.75857032C>G
  • NM_014000.2:c.1814C>G
Protein change:
P605R
Links:
dbSNP: rs960761223
NCBI 1000 Genomes Browser:
rs960761223
Molecular consequence:
  • NM_003373.4:c.1814C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014000.3:c.1814C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Dilated cardiomyopathy 1W (CMD1W)
Identifiers:
MONDO: MONDO:0012667; MedGen: C1969639; Orphanet: 154; OMIM: 611407
Name:
Hypertrophic cardiomyopathy 15
Synonyms:
Familial hypertrophic cardiomyopathy 15
Identifiers:
MONDO: MONDO:0013200; MedGen: C2750459; OMIM: 613255

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003925405New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Feb 9, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV003925405.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1814C>G variant in VCL has not previously been reported in the literature, however, it was deposited in ClinVar as Variant of Unknown Significance (ClinVar ID:468812). The c.1814C>G variant is observed in 6 alleles (~0.0015% minor allele frequency with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2,TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases. The c.1814C>G variant is located in exon 13 of this 22-exon gene, and predicted to replace an evolutionarily conserved proline amino acid with arginine at position 605 (p.(Pro605Arg)) in the nonspecific region of the encoded protein (UniProtKB: P18206). In silico predictions are in favor of damaging effect for the predicted p.(Pro605Arg) variant (CADD v1.6 = 27.0, REVEL =0.822). Based on available evidence this heterozygous c.1814C>G p.(Pro605Arg) variant identified in VCL is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: May 1, 2024