ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.988G>A (p.Glu330Lys)

gnomAD frequency: 0.00002  dbSNP: rs755389218
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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 RCV000687110 SCV000814662 uncertain significance Familial meningioma 2024-01-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 330 of the SMARCE1 protein (p.Glu330Lys). This variant is present in population databases (rs755389218, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SMARCE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 567118). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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.
Ambry Genetics RCV001019862 SCV001181271 likely benign Hereditary cancer-predisposing syndrome 2022-03-02 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.
Baylor Genetics RCV000687110 SCV005052820 uncertain significance Familial meningioma 2024-03-21 criteria provided, single submitter clinical testing

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