ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.92C>T (p.Pro31Leu)

dbSNP: rs374390376
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073290 SCV001238827 pathogenic Retinal dystrophy 2018-10-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001384938 SCV001584633 pathogenic not provided 2023-04-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 30575). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 21310491). 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 proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 31 of the CLRN1 protein (p.Pro31Leu). 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. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CLRN1 function (PMID: 21310491).
OMIM RCV000023538 SCV000044829 pathogenic Retinitis pigmentosa 61 2011-07-01 no assertion criteria provided literature only

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