ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)

dbSNP: rs1420546201
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059253 SCV001223873 likely pathogenic not provided 2023-08-28 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 3 of the PCARE protein (p.Cys3Tyr). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 854244). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 33576794, 34964967; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency).
Blueprint Genetics RCV001074612 SCV001240203 uncertain significance Retinal dystrophy 2019-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482039 SCV002790149 uncertain significance Retinitis pigmentosa 54 2021-11-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001074612 SCV004705378 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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