ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1752_1755del (p.Lys585fs)

dbSNP: rs2087041072
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001095764 SCV001251607 likely pathogenic Rhabdoid tumor predisposition syndrome 2 2020-01-27 criteria provided, single submitter clinical testing The SMARCA4 c.1752_1755delGAAA (p.Lys585ArgfsTer27) variant results in a frameshift and is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Consortium in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the predicted truncating nature of the variant and its rarity, the p.Lys585ArgfsTer27 variant is classified as likely pathogenic for rhabdoid tumor predisposition syndrome.
Baylor Genetics RCV001095764 SCV004205009 likely pathogenic Rhabdoid tumor predisposition syndrome 2 2021-04-14 criteria provided, single submitter clinical testing

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