ClinVar Miner

Submissions for variant NM_001009925.2(TMEM230):c.233G>T (p.Arg78Leu)

dbSNP: rs764786986
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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 RCV000235004 SCV004298032 pathogenic not provided 2023-09-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 141 of the TMEM230 protein (p.Arg141Leu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with Parkinson disease (PMID: 27270108). It has also been observed to segregate with disease in related individuals. This variant is also known as R78L. ClinVar contains an entry for this variant (Variation ID: 243014). 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. Experimental studies have shown that this missense change affects TMEM230 function (PMID: 27270108, 30460091). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000235004 SCV000292378 uncertain significance not provided 2014-04-01 no assertion criteria provided literature only

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