ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) (rs397516970)

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Total submissions: 2
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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 RCV000171925 SCV000055174 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038111 SCV000061777 uncertain significance not specified 2012-05-02 criteria provided, single submitter clinical testing The Gly2832Val variant (DSP) has not been reported in the literature. It has bee n identified by our laboratory in one individual with DCM, but did not segregate with disease in one affected relative, arguing against a pathogenic role. Compu tational analyses (biochemical amino acid properties, conservation, AlignGVGD, P olyPhen2, and SIFT) do not provide strong support for or against an impact to th e protein. this variant has not been identified in a very large and broad popula tion by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). T his low frequency is consistent with a disease causing role, but is insufficient to establish this with certainty. Additional information is needed to fully ass ess the clinical significance of this variant.

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