ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp)

gnomAD frequency: 0.00001  dbSNP: rs387907136
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002228055 SCV002508906 pathogenic not provided 2024-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 177 of the C8orf37 protein (p.Arg177Trp). This variant is present in population databases (rs387907136, gnomAD 0.01%). This missense change has been observed in individuals with cone-rod dystrophy (PMID: 22177090, 25515582, 30029497, 31456290). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 31194). 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. Experimental studies have shown that this missense change affects C8orf37 function (PMID: 27008867). For these reasons, this variant has been classified as Pathogenic.
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV004794345 SCV005415454 likely pathogenic Retinal dystrophy 2024-05-27 criteria provided, single submitter research
OMIM RCV000024193 SCV000045484 pathogenic Cone-rod dystrophy 16 2012-01-13 no assertion criteria provided literature only
OMIM RCV000477682 SCV000564238 pathogenic Bardet-biedl syndrome 21 2012-01-13 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002908 SCV001160943 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Faculty of Health Sciences, Beirut Arab University RCV001257837 SCV001434700 pathogenic Autosomal recessive retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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