ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) (rs201826850)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618112 SCV000738211 uncertain significance Cardiovascular phenotype 2017-10-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171924 SCV000050921 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Invitae RCV000536021 SCV000641354 uncertain significance Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-06-26 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 2821 of the DSP protein (p.Ser2821Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs201826850, ExAC 0.009%). This variant has been reported two individuals affected with dilated cardiomyopathy (PMID: 21859740, Invitae). ClinVar contains an entry for this variant (Variation ID: 191646). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on DSP function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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