ClinVar Miner

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

dbSNP: rs2037085057
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Total submissions: 4
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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 2025-01-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 337 of the SMARCE1 protein (p.Asn337Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of SMARCE1-related conditions (PMID: 37500730). ClinVar contains an entry for this variant (Variation ID: 857521). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SMARCE1 protein function with a negative predictive value of 80%. 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.
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.
GeneDx RCV005232099 SCV005875156 uncertain significance not provided 2024-08-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in an individual with a neurodevelopmental disorder (NDD) in published literature (PMID: 37500730); This variant is associated with the following publications: (PMID: 19245665, 37500730)

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