ClinVar Miner

Submissions for variant NM_001387283.1(SMARCA4):c.4219G>T (p.Gly1407Trp)

dbSNP: rs751103947
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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 RCV000699012 SCV000827706 uncertain significance Rhabdoid tumor predisposition syndrome 2 2018-03-17 criteria provided, single submitter clinical testing 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SMARCA4-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces glycine with tryptophan at codon 1407 of the SMARCA4 protein (p.Gly1407Trp). The glycine residue is weakly conserved and there is a large physicochemical difference between glycine and tryptophan.

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