ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.3748C>T (p.Arg1250Cys)

gnomAD frequency: 0.00003  dbSNP: rs727503829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152889 SCV000202313 uncertain significance not provided 2014-01-30 criteria provided, single submitter clinical testing
Invitae RCV000152889 SCV001210362 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 166759). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 25268133). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1250 of the PCARE protein (p.Arg1250Cys). 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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