ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5711C>T (p.Ala1904Val)

dbSNP: rs1473162721
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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 RCV001178603 SCV001343085 uncertain significance Cardiomyopathy 2024-02-12 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 1904 of the DSP protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. 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 1/251194 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003769929 SCV004573301 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-12-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004807336 SCV005428988 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-03-24 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 1904 of the DSP protein. Computational prediction tools indicate that this variant has a neutral impact on protein structure and function. 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 1/251194 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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