ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.621C>A (p.Asp207Glu)

dbSNP: rs1265234802
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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 RCV002615061 SCV003494281 uncertain significance PRPH2-related disorder 2022-09-22 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of PRPH2-related conditions (Invitae). 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 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 sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 207 of the PRPH2 protein (p.Asp207Glu). This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV004725540 SCV005334446 uncertain significance not provided 2024-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35260635)

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