ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1198G>T (p.Gly400Cys)

dbSNP: rs201361282
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172501 SCV000051351 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152644 SCV000201980 uncertain significance not specified 2014-01-24 criteria provided, single submitter clinical testing The Gly400Cys variant in VCL has not been reported in individuals with cardiomyo pathy, but has been identified in 1/1324 European chromosomes by the ClinSeq pro ject (dbSNP rs201361282). Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, and SIFT) do not provide strong support for or aga inst an impact to the protein. Additional information is needed to fully assess the clinical significance of the Gly400Cys variant.
Invitae RCV001053034 SCV001217276 uncertain significance Dilated cardiomyopathy 1W 2021-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000172501 SCV001990810 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 166542; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002345484 SCV002643025 uncertain significance Cardiovascular phenotype 2021-05-13 criteria provided, single submitter clinical testing The p.G400C variant (also known as c.1198G>T), located in coding exon 10 of the VCL gene, results from a G to T substitution at nucleotide position 1198. The glycine at codon 400 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported as a secondary cardiac variant in an exome cohort; however, clinical details are limited (Ng D et al. Circ Cardiovasc Genet, 2013 Aug;6:337-46). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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