ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.782C>T (p.Ala261Val)

gnomAD frequency: 0.00067  dbSNP: rs139509870
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172533 SCV000055162 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038092 SCV000061758 uncertain significance not specified 2013-01-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala261Val varia nt in DSP has not been reported in the literature nor previously identified by o ur laboratory. This variant has been identified in 0.1% (5/4406) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs139509870). Alanine (Ala) at position 261 is not conserved in mammals and additional computational analyses (biochemic al amino acid properties, AlignGVGD, PolyPhen2, and SIFT) suggest that the varia nt may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the frequency of this variant and the lac k of conservation at this position suggest that the Ala261Val variant is more li kely benign, though additional information is needed to fully assess its clinica l significance.
Ambry Genetics RCV000249468 SCV000320430 likely benign Cardiovascular phenotype 2021-11-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000172533 SCV000512874 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23861362)
Invitae RCV001079525 SCV000555771 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001175837 SCV001339607 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing

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