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
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.
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 not provided 2018-09-04 criteria provided, single submitter clinical testing

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