ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.4889A>G (p.Asp1630Gly)

dbSNP: rs2147126711
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257275 SCV002535205 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-10 criteria provided, single submitter curation
Ambry Genetics RCV002257275 SCV002642208 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-03 criteria provided, single submitter clinical testing The p.D1662G variant (also known as c.4985A>G), located in coding exon 34 of the SMARCA4 gene, results from an A to G substitution at nucleotide position 4985. The aspartic acid at codon 1662 is replaced by glycine, 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. Missense and in-frame variants in SMARCA4 are known to cause neurodevelopmental disorders; however, such associations with rhabdoid tumor predisposition syndrome including small cell carcinoma of the ovary-hypercalcemic type (SCCOHT) are exceedingly rare (Kosho T et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75; Jelinic P et al. Nat Genet. 2014 May;46(5):424-6). Based on the supporting evidence, the association of this alteration with Coffin-Siris syndrome is unknown; however, the association of this alteration with rhabdoid tumor predisposition syndrome is unlikely.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094231 SCV003208006 uncertain significance Rhabdoid tumor predisposition syndrome 2 2022-06-14 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C65"). 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 aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1662 of the SMARCA4 protein (p.Asp1662Gly).

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