ClinVar Miner

Submissions for variant NM_014672.4(PRORP):c.1454C>T (p.Ala485Val)

dbSNP: rs1169927428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Evolution and Genomic Sciences, University of Manchester RCV000855453 SCV000930010 likely pathogenic Perrault syndrome 1 2018-10-01 no assertion criteria provided research Variant seen as a homozygous variant in affected individual from one family with Perrault syndrome
OMIM RCV001824882 SCV002074559 pathogenic Combined oxidative phosphorylation deficiency 54 2024-03-11 no assertion criteria provided literature only

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