ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.5000A>G (p.Gln1667Arg) (rs1568566518)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000761560 SCV000891161 uncertain significance Coffin-Siris syndrome 1 2019-03-01 criteria provided, single submitter clinical testing The observed variant NM_001128849.1:c.5000A>G/p.Gln1667Arg is in exon-35 of the SMARCA4 gene. It has not been reported in the 1000 Genomes, ExAC and gnomAD databases. The in silico prediction of this variant is damaging by LRT, MutationTaster2, Mutation Assessor and FATHMM.

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