ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1399G>A (p.Val467Ile) (rs727504533)

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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, Partners HealthCare Personalized Medicine RCV000155683 SCV000205393 uncertain significance not specified 2013-04-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Val467Ile varia nt in DSG2 has not been reported in individuals with cardiomyopathy or in large population studies. Valine (Val) at position 467 is not conserved in mammals and evolutionarily distant species, and marmoset carries an isoleucine (Ile; this v ariant) at this position, raising the possibility that this change may be tolera ted. Additional computational analyses (biochemical amino acid properties, Align GVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Alt hough the high lack of conservation and the presence of this variant in another primate support that the Val467Ile variant may be benign, additional studies are needed to fully assess its clinical significance.

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