ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.281C>T (p.Thr94Ile)

dbSNP: rs104893796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000013929 SCV002521024 likely pathogenic Congenital stationary night blindness autosomal dominant 1 2022-05-22 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: 0.67; 3Cnet: 0.96). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with RHO related disorder (ClinVar ID: VCV000013054 / PMID: 9888392). The variant has been reported to co-segregate with the disease in at least 5 similarly affected relatives/individuals in the same family or similarly affected unrelated families (PMID:9888392). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000013929 SCV000034176 pathogenic Congenital stationary night blindness autosomal dominant 1 1999-01-01 no assertion criteria provided literature only

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