ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.178T>C (p.Tyr60His)

gnomAD frequency: 0.00005  dbSNP: rs771007146
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002533923 SCV003478326 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 60 of the RHO protein (p.Tyr60His). This variant is present in population databases (rs771007146, gnomAD 0.01%). This missense change has been observed in individual(s) with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 625298). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RHO protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000767357 SCV000897928 uncertain significance Retinitis pigmentosa 4 2019-01-09 no assertion criteria provided research
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817984 SCV005071505 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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