ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5887A>G (p.Thr1963Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003056490 SCV003447622 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1963 of the DSP protein (p.Thr1963Ala). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DSP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004070226 SCV004859858 uncertain significance Cardiovascular phenotype 2024-03-01 criteria provided, single submitter clinical testing The c.5887A>G (p.T1963A) alteration is located in exon 24 (coding exon 24) of the DSP gene. This alteration results from a A to G substitution at nucleotide position 5887, causing the threonine (T) at amino acid position 1963 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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