ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.1395G>A (p.Val465=)

gnomAD frequency: 0.00004  dbSNP: rs757428273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001299942 SCV001489058 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1003395). This variant has not been reported in the literature in individuals affected with PCARE-related conditions. This variant is present in population databases (rs757428273, gnomAD 0.03%). This sequence change affects codon 465 of the PCARE mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PCARE protein.
Dept Of Ophthalmology, Nagoya University RCV003887996 SCV004705349 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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