ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.625G>A (p.Val209Met)

gnomAD frequency: 0.00004  dbSNP: rs567288669
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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 RCV001058715 SCV001223306 uncertain significance not provided 2024-07-31 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 209 of the RHO protein (p.Val209Met). This variant is present in population databases (rs567288669, gnomAD 0.007%). This missense change has been observed in individuals with retinitis pigmentosa or clinical features of inherited retinal disease (PMID: 8317502, 19506198; Invitae). ClinVar contains an entry for this variant (Variation ID: 853825). 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%. Experimental studies have shown that this missense change affects RHO function (PMID: 27694816, 30085663). 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813654 SCV005069142 likely pathogenic Retinal dystrophy 2015-01-01 criteria provided, single submitter clinical testing

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