ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys) (rs746932951)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780212 SCV000917295 uncertain significance not specified 2018-10-01 criteria provided, single submitter clinical testing Variant summary: DSP c.7583A>G (p.Tyr2528Cys) results in a non-conservative amino acid change located in the Plectin repeat of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 246270 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7583A>G in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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