ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.770A>G (p.Tyr257Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003431865 SCV004161622 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing PRPH2: PM1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003757270 SCV004450884 uncertain significance PRPH2-related disorder 2023-03-23 criteria provided, single submitter clinical testing 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 expected to disrupt PRPH2 protein function. 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. This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 257 of the PRPH2 protein (p.Tyr257Cys).

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