ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.959C>A (p.Thr320Asn)

gnomAD frequency: 0.00011  dbSNP: rs138831590
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380819 SCV000440884 likely benign Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000295474 SCV000440885 likely benign Congenital stationary night blindness autosomal dominant 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001322065 SCV001512920 likely benign not provided 2024-08-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401364 SCV004104106 uncertain significance RHO-related disorder 2023-04-07 criteria provided, single submitter clinical testing The RHO c.959C>A variant is predicted to result in the amino acid substitution p.Thr320Asn. This variant has been reported in the heterozygous state in an individual with retinitis pigmentosa (Mandal et al. 2005. PubMed ID: 16123440). A functional study measuring the surface expression of the RHO protein found this amino acid substitution did not negatively affect the level of expression (Wan et al. 2019. PubMed ID: 30977563). This variant is reported in 0.016% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-129252473-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV001322065 SCV005257744 likely benign not provided criteria provided, single submitter not provided
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816589 SCV005068591 uncertain significance Retinal dystrophy 2021-01-01 no assertion criteria provided clinical testing

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