ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4918T>A (p.Ser1640Thr)

dbSNP: rs1568570437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225338 SCV001397614 uncertain significance Rhabdoid tumor predisposition syndrome 2 2020-10-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SMARCA4-related conditions. This sequence change replaces serine with threonine at codon 1672 of the SMARCA4 protein (p.Ser1672Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). 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.
Ambry Genetics RCV002339606 SCV002640828 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-26 criteria provided, single submitter clinical testing The p.S1672T variant (also known as c.5014T>A), located in coding exon 35 of the SMARCA4 gene, results from a T to A substitution at nucleotide position 5014. The serine at codon 1672 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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