ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.854A>G (p.Tyr285Cys)

dbSNP: rs2032454669
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152910 SCV003841440 uncertain significance Intellectual disability, autosomal dominant 56 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.75). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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