ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.875_877delinsACG (p.Arg292_Ile293delinsHisVal)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV005400822 SCV006061949 uncertain significance Cardiomyopathy 2024-11-13 criteria provided, single submitter clinical testing This variant causes an in-frame substitution of two amino acids at codons 292 and 293 with two novel amino acids in the DSG2 protein (p.Arg292_Ile293delinsHisVal). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSG2-related 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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