ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.628C>T (p.Pro210Ser) (rs61755797)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084996 SCV000609207 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV001381220 SCV001579524 pathogenic PRPH2-Related Disorders 2020-08-07 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 210 of the PRPH2 protein (p.Pro210Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with retinitis pigmentosa and pattern dystrophy (PMID: 8045710, 12045052). ClinVar contains an entry for this variant (Variation ID: 98686). 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 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, 26796962). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000084996 SCV000117132 not provided not provided no assertion provided not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787666 SCV000926656 likely pathogenic Vitelliform macular dystrophy type 2 2018-04-01 no assertion criteria provided research
Leiden Open Variation Database RCV000084996 SCV001745087 likely pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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