ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)

gnomAD frequency: 0.00044  dbSNP: rs200696965
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000355654 SCV000429886 uncertain significance Retinitis pigmentosa 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000766629 SCV000576664 uncertain significance not provided 2017-04-24 criteria provided, single submitter clinical testing The P433S variant in the C2orf71 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P433S variant is observed in 80/66,738 alleles (0.1%) from individuals of non-Finnish European background in the ExAC dataset, including two homozygous controls (Lek et al., 2016). The P433S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret P433S as a variant of uncertain significance.
Eurofins Ntd Llc (ga) RCV000489456 SCV000860238 likely benign not specified 2018-03-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765664 SCV000896998 uncertain significance Retinitis pigmentosa 54 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000766629 SCV001110218 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000489456 SCV001160584 likely benign not specified 2019-06-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000766629 SCV002544016 benign not provided 2024-03-01 criteria provided, single submitter clinical testing PCARE: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003922450 SCV004739240 benign PCARE-related disorder 2020-12-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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