ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2174C>T (p.Pro725Leu)

dbSNP: rs876657788
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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 RCV000221078 SCV000271706 uncertain significance not specified 2015-04-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro725Leu var iant in DSC2 has not been previously reported in individuals with cardiomyopathy or in large population studies. Proline (Pro) at position 725 is not conserved in evolution, and 2 mammals (squirrel monkey and lesser Egyptian jerboa) carry a leucine (Leu) at this position, raising the possibility that this change may be tolerated. In summary, while the clinical significance of the p.Pro725Leu varia nt is uncertain, the presence of the variant amino acid in other species suggest s that it is more likely to be benign.

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