ClinVar Miner

Submissions for variant NM_004595.5(SMS):c.335C>A (p.Pro112Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003153129 SCV003841939 likely pathogenic Syndromic X-linked intellectual disability Snyder type 2025-01-17 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.78; 3Cnet: 0.95). Different missense changes at the same codon (p.Pro112Ala, p.Pro112Leu) have been reported to be associated with SMS related disorder (ClinVar ID: VCV001175812 / PMID: 26761001, 34177437). This variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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