ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn) (rs201284350)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001156 SCV001158305 uncertain significance not specified 2019-04-09 criteria provided, single submitter clinical testing The C2orf71 (PCARE) c.1114G>A; p.Asp372Asn variant (rs201284350) is reported in the literature in an individual affected with retinitis pigmentosa, though it was not demonstrated to be disease-causing (Audo 2011). This variant is found on nine chromosomes (9/280902 alleles) in the Genome Aggregation Database. The aspartate at codon 372 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Asp372Asn variant is uncertain at this time. References: Audo I et al. Novel C2orf71 mutations account for 1% of cases in a large French arRP cohort. Hum Mutat. 2011 Apr;32(4):E2091-103
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001247310 SCV001367888 uncertain significance not provided 2019-05-04 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP5.
Invitae RCV001247310 SCV001420722 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 372 of the PCARE protein (p.Asp372Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs201284350, ExAC 0.009%). This variant has not been reported in the literature in individuals with PCARE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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