ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys)

dbSNP: rs760200525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839204 SCV002099152 uncertain significance SIN3A-related intellectual disability syndrome due to a point mutation 2021-04-16 criteria provided, single submitter clinical testing The inherited heterozygous c.3346C>T (p.Arg1116Cys) variant identified in the SIN3A gene has not been reported in affected individuals in the literature. The variant is absent from gnomAD(v3) database suggestingit is not a common benign variant in the populations represented in that database. The variant affects an evolutionarily conserved residue and is predicted deleterious by multiple in silico prediction tools. Given the lack of compelling evidence for its pathogenicity, the inherited heterozygous c.3346C>T (p.Arg1116Cys) variant identified in the SIN3A gene is reported as a variant of uncertain significance.

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