ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4868A>G (p.Lys1623Arg)

dbSNP: rs1600649183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023334 SCV001185196 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-14 criteria provided, single submitter clinical testing The p.K1655R variant (also known as c.4964A>G), located in coding exon 34 of the SMARCA4 gene, results from an A to G substitution at nucleotide position 4964. The lysine at codon 1655 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001245533 SCV001418827 uncertain significance Rhabdoid tumor predisposition syndrome 2 2022-01-31 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: 825328). 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 lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1655 of the SMARCA4 protein (p.Lys1655Arg).
Genome-Nilou Lab RCV001809949 SCV002057002 uncertain significance Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing

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