ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) (rs397516928)

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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 RCV000245114 SCV000319605 uncertain significance Cardiovascular phenotype 2015-12-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000538882 SCV000641300 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-07-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038022 SCV000061688 uncertain significance not specified 2012-01-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asn956Tyr varia nt (DSP) has been identifed in 2/1054 reportedly healthy control chromosomes (Ka pplinger 2011, Wei_2011). Computational analyses (biochemical amino acid propert ies, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. Although this data suggests that the Asn956Tyr variant may be benign, additional information is needed to fully assess its clinical signifi cance.

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