ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) (rs190791051)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757048 SCV000885130 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing The C2orf71 c.530C>T; p.Pro177Leu variant (rs190791051) is reported in the medical literature in an individual with retinitis pigmentosa (Haer-Wigman 2017). The variant is found in the African population with an allele frequency of 0.5% (111/24012 alleles) in the Genome Aggregation Database. The proline at codon 177 is conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Considering available information, there is insufficient evidence to classify the variant with certainty. Pathogenic C2orf71 variants are causative for autosomal recessive retinitis pigmentosa (MIM: 613428). References: Haer-Wigman L et al. Diagnostic exome sequencing in 266 Dutch patients with visual impairment. Eur J Hum Genet. 2017 May;25(5):591-599.
Invitae RCV000757048 SCV001711613 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing

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