ClinVar Miner

Submissions for variant NM_001282874.2(SMARCA1):c.2116C>T (p.Arg706Cys)

gnomAD frequency: 0.00035  dbSNP: rs140388140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429049 SCV000514712 likely benign not specified 2015-04-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000429049 SCV003738551 uncertain significance not specified 2021-10-26 criteria provided, single submitter clinical testing The c.2116C>T (p.R706C) alteration is located in exon 17 (coding exon 17) of the SMARCA1 gene. This alteration results from a C to T substitution at nucleotide position 2116, causing the arginine (R) at amino acid position 706 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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