ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr) (rs1275376903)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770544 SCV000901991 uncertain significance Cardiomyopathy 2016-12-20 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770544 SCV001344011 uncertain significance Cardiomyopathy 2020-07-15 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with tyrosine at codon 99 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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