ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2800A>T (p.Ile934Leu)

dbSNP: rs1469730786
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001526262 SCV001736570 uncertain significance Cardiomyopathy 2024-03-06 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with leucine at codon 934 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261374 SCV002541459 uncertain significance not provided 2021-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995937 SCV005575795 uncertain significance Cardiovascular phenotype 2024-10-01 criteria provided, single submitter clinical testing The c.2800A>T (p.I934L) alteration is located in exon 15 (coding exon 15) of the DSG2 gene. This alteration results from a A to T substitution at nucleotide position 2800, causing the isoleucine (I) at amino acid position 934 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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