ClinVar Miner

Submissions for variant NM_001005273.3(CHD3):c.3878T>C (p.Val1293Ala)

dbSNP: rs2151609046
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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 RCV001775272 SCV002012011 likely pathogenic Snijders Blok-Campeau syndrome 2021-10-02 criteria provided, single submitter clinical testing The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.806, 3Cnet: 0.797, PP3). Patient is considered compatible with Snijders Blok-Campeau syndrome(PP4_P). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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