ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5932A>G (p.Met1978Val)

gnomAD frequency: 0.00002  dbSNP: rs770077556
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465768 SCV000543282 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-07-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188150 SCV001355125 uncertain significance Cardiomyopathy 2023-02-28 criteria provided, single submitter clinical testing This missense variant replaces methionine with valine at codon 1978 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 6/277156 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.
Ambry Genetics RCV002356648 SCV002647527 uncertain significance Cardiovascular phenotype 2021-02-18 criteria provided, single submitter clinical testing The p.M1978V variant (also known as c.5932A>G), located in coding exon 24 of the DSP gene, results from an A to G substitution at nucleotide position 5932. The methionine at codon 1978 is replaced by valine, an amino acid with highly similar properties. This variant was reported in one individuals from a dilated cardiomyopathy cohort; however, clinical details were limited (Mazzarotto F et al. Circulation, 2020 02;141:387-398). This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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