ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4376C>T (p.Thr1459Ile)

dbSNP: rs1555788341
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646811 SCV000768596 uncertain significance Rhabdoid tumor predisposition syndrome 2 2022-10-20 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 537775). This variant has not been reported in the literature in individuals affected with SMARCA4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1491 of the SMARCA4 protein (p.Thr1491Ile).
Fulgent Genetics, Fulgent Genetics RCV000765424 SCV000896708 uncertain significance Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809715 SCV002056936 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331209 SCV002636083 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-18 criteria provided, single submitter clinical testing The p.T1491I variant (also known as c.4472C>T), located in coding exon 30 of the SMARCA4 gene, results from a C to T substitution at nucleotide position 4472. The threonine at codon 1491 is replaced by isoleucine, 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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