ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1001G>T (p.Gly334Val)

dbSNP: rs397517388
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039399 SCV000063083 uncertain significance not specified 2010-12-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Gly334Val v ariant has not been reported in the literature and has not been previously detec ted in our laboratory. Glycine (Gly) at position 334 is conserved across in mam mals (more distant species were not available), which is consistent with a disea se causing role but is insufficient to prove pathogenicity. In addition, three c omputer programs (AlignGCGD, PolyPhen, SIFT) predict the variant to significantl y affect the protein?s function. In summary, additional studies are necessary t o determine the clinical significance of this variant.

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