ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.782C>T (p.Ala261Val) (rs139509870)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249468 SCV000320430 uncertain significance Cardiovascular phenotype 2017-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172533 SCV000055162 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000038092 SCV000512874 likely benign not specified 2016-07-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000461679 SCV000555771 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-12-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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.

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