ClinVar Miner

Submissions for variant NM_001330288.2(SMARCC2):c.2953A>G (p.Met985Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785811 SCV005400865 uncertain significance Coffin-Siris syndrome 8 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.2953A>G(p.Met985Val) variant in SMARCC2 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Met985Val variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Disease causing) predict conflicting evidence on protein structure and function for this variant. The reference amino acid change at this position on SMARCC2 gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Met at position 985 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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