ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.656_658del (p.Pro219del)

dbSNP: rs61755807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085009 SCV005325359 likely pathogenic not provided 2024-01-30 criteria provided, single submitter clinical testing In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 1684223, 9331261, 26773759, 34411390)
OMIM RCV000014049 SCV000034296 pathogenic Retinitis pigmentosa 7 1991-12-12 no assertion criteria provided literature only
Retina International RCV000085009 SCV000117145 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085009 SCV001744985 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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