ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.50C>T (p.Ser17Phe)

dbSNP: rs2085806321
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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 RCV001227359 SCV001399712 uncertain significance Rhabdoid tumor predisposition syndrome 2 2019-08-05 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. This variant has not been reported in the literature in individuals with SMARCA4-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 17 of the SMARCA4 protein (p.Ser17Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.

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