ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.1033G>C (p.Val345Leu)

dbSNP: rs104893795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213632 SCV001385274 pathogenic not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 345 of the RHO protein (p.Val345Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 8045708, 8088850). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 13052). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RHO protein function. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013927 SCV000034174 pathogenic Retinitis pigmentosa 4 1994-05-15 no assertion criteria provided literature only

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