ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4647C>G (p.Asp1549Glu)

dbSNP: rs1260006751
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002012024 SCV002227371 uncertain significance Rhabdoid tumor predisposition syndrome 2 2021-10-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 1581 of the SMARCA4 protein (p.Asp1581Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). 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 C35"). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions.

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