ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln)

dbSNP: rs1283110287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319666 SCV001510423 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-05-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532946 SCV004363366 uncertain significance Cardiomyopathy 2022-11-06 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamine at codon 1209 of the DSP 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 DSP-related disorders in the literature. This variant has been identified in 1/251172 chromosomes 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.
All of Us Research Program, National Institutes of Health RCV004005098 SCV004826654 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamine at codon 1209 of the DSP 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 DSP-related disorders in the literature. This variant has been identified in 1/251172 chromosomes 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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