ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2570A>C (p.Asn857Thr)

gnomAD frequency: 0.00001  dbSNP: rs758364172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001302384 SCV001491592 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 857 of the PCARE protein (p.Asn857Thr). This variant is present in population databases (rs758364172, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with PCARE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1005502). 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 tolerated. 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.
Dept Of Ophthalmology, Nagoya University RCV003888002 SCV004705326 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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