ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1885A>G (p.Thr629Ala)

dbSNP: rs2087811842
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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 RCV001207566 SCV001378928 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-06-21 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 629 of the SMARCA4 protein (p.Thr629Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMARCA4-related conditions. 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 C55"). 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.

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