ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.947del (p.Asn316fs) (rs779886453)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043046 SCV001206757 pathogenic not provided 2020-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn316Metfs*7) in the PCARE gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779886453, ExAC 0.003%). This variant has been observed to segregate with autosomal recessive retinitis pigmentosa in a family (PMID: 20398884). This variant is also known as c.946del and this gene is also known as C2orf71 in the literature. ClinVar contains an entry for this variant (Variation ID: 103). Loss-of-function variants in PCARE are known to be pathogenic (PMID: 20398886, 24339724, 26496393). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000123 SCV000020266 pathogenic Retinitis pigmentosa 54 2010-05-14 no assertion criteria provided literature only

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