Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
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 | 2024-01-29 | criteria provided, single submitter | clinical testing |