ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.628C>G (p.Pro210Ala)

dbSNP: rs61755797
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001379296 SCV001577071 pathogenic PRPH2-related disorder 2022-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro210 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11139241, 11485765, 16799052). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 1067912). This missense change has been observed in individual(s) with autosomal dominant PRPH2-related conditions (Invitae). This variant is present in population databases (rs61755797, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 210 of the PRPH2 protein (p.Pro210Ala).

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