ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.637T>A (p.Cys213Ser)

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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 RCV003757680 SCV004502671 pathogenic PRPH2-related disorder 2023-03-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. 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. This missense change has been observed in individuals with pattern dystrophy and/or Stargardt disease (PMID: 11934323, 32531846). It has also been observed to segregate with disease in related individuals. This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 213 of the PRPH2 protein (p.Cys213Ser).

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