ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr)

dbSNP: rs2037085057
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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 RCV001063210 SCV001228046 uncertain significance Familial meningioma 2021-09-28 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with tyrosine at codon 337 of the SMARCE1 protein (p.Asn337Tyr). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and tyrosine.
Baylor Genetics RCV001331016 SCV001522914 uncertain significance Coffin-Siris syndrome 5 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002451270 SCV002740015 likely benign Hereditary cancer-predisposing syndrome 2024-07-11 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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