ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.317G>C (p.Arg106Pro)

dbSNP: rs76216585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000143862 SCV000786709 pathogenic Cone-rod dystrophy 20 criteria provided, single submitter research The homozgous p.Arg106Pro variant was identified by our study in one individual with cone-rod dystrophy. The p.Arg106Pro is pathogenic due to evidence in the literature. This variant has been reported to be homozygous in 8 individuals with either cone dystrophy or cone-rod dystrophy across 3 families.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857487 SCV002235703 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects POC1B function (PMID: 25018096). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 155769). This missense change has been observed in individuals with autosomal recessive cone-rod dystrophy (PMID: 24945461, 25018096). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 106 of the POC1B protein (p.Arg106Pro).
OMIM RCV000143862 SCV000188730 pathogenic Cone-rod dystrophy 20 2014-10-01 no assertion criteria provided literature only

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