ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.330A>C (p.Glu110Asp)

dbSNP: rs372964610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368064 SCV001564440 uncertain significance Familial meningioma 2020-10-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs372964610, ExAC 0.01%). This sequence change replaces glutamic acid with aspartic acid at codon 110 of the SMARCE1 protein (p.Glu110Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant has not been reported in the literature in individuals with SMARCE1-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Baylor Genetics RCV001368064 SCV005052817 uncertain significance Familial meningioma 2024-03-26 criteria provided, single submitter clinical testing

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