ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4922G>A (p.Gly1641Glu)

dbSNP: rs1555797457
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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 RCV000646814 SCV000768599 uncertain significance Rhabdoid tumor predisposition syndrome 2 2017-11-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SMARCA4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 1673 of the SMARCA4 protein (p.Gly1673Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. 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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