ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)

gnomAD frequency: 0.00005  dbSNP: rs376751288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621798 SCV000735737 uncertain significance Cardiovascular phenotype 2024-05-13 criteria provided, single submitter clinical testing The p.A2761T variant (also known as c.8281G>A), located in coding exon 24 of the DSP gene, results from a G to A substitution at nucleotide position 8281. The alanine at codon 2761 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000641806 SCV000763456 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-10-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190260 SCV001357711 uncertain significance Cardiomyopathy 2023-05-03 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 2761 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 been identified in 3/282706 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 RCV004002646 SCV004814284 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-05-09 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 2761 of the DSP protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, 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 been identified in 3/282706 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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