ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)

gnomAD frequency: 0.00004  dbSNP: rs771862077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205977 SCV000261638 likely benign Shprintzen-Goldberg syndrome 2023-12-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507645 SCV000605111 uncertain significance not specified 2016-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315636 SCV000739617 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001589093 SCV001816944 likely benign not provided 2022-03-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported as a variant of uncertain significance and a likely benign variant by other clinical laboratories in ClinVar but additional evidence is not available (ClinVar Variant ID# 220793; ClinVar)

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