ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4921G>C (p.Gly1641Arg)

dbSNP: rs1188692885
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203170 SCV001374322 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-06-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1673 of the SMARCA4 protein (p.Gly1673Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. 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. 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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