ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)

gnomAD frequency: 0.00001  dbSNP: rs767714019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050625 SCV002112956 uncertain significance not provided 2021-10-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. This variant is present in population databases (rs767714019, ExAC 0.01%). This sequence change replaces alanine with valine at codon 1017 of the SRCAP protein (p.Ala1017Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.
Fulgent Genetics, Fulgent Genetics RCV002482413 SCV002786780 uncertain significance Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-10-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543493 SCV003546067 likely benign Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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