ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe)

dbSNP: rs267606690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512591 SCV003524158 uncertain significance not provided 2023-06-30 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. Experimental studies have shown that this missense change affects PCARE function (PMID: 32312818). 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: 102). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 20398886; Invitae). This variant is present in population databases (rs267606690, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 201 of the PCARE protein (p.Ile201Phe).
OMIM RCV000000122 SCV000020265 pathogenic Retinitis pigmentosa 54 2010-05-14 no assertion criteria provided literature only

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