Submissions for variant NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)

gnomAD frequency: 0.00126  dbSNP: rs184249075

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000424122	SCV000530810	uncertain significance	not provided	2018-01-22	criteria provided, single submitter	clinical testing	The R955Q variant in the C2orf71 gene has been reported previously in association with retinitis pigmentosa, in an affected individual who was heterozygous for the R955Q variant and another variant; however this individual also harbored a variant in the PROM1 gene and the RP1 gene (Wang et al., 2014). The R955Q variant is observed in 349/276424 (0.1263%) alleles in large population cohorts (Lek et al., 2016). The R955Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret R955Q as a variant of uncertain significance.
Invitae	RCV000424122	SCV001099732	likely benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001143262	SCV001303770	likely benign	Retinitis pigmentosa	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Dept Of Ophthalmology, Nagoya University	RCV003889890	SCV004705319	likely benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003902595	SCV004720468	likely benign	PCARE-related condition	2023-01-13	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000424122	SCV001923431	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000424122	SCV001975644	likely benign	not provided		no assertion criteria provided	clinical testing