ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr) (rs267607119)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821785 SCV000962554 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 833 of the TMEM67 protein (p.Ile833Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs267607119, ExAC 0.006%). This variant has been observed to segregate with Joubert syndrome in families (PMID: 19058225, 21866095) and has also been observed in individuals with Joubert syndrome (PMID: 19058225, 21866095, 26092869, 28497568, 28973083). ClinVar contains an entry for this variant (Variation ID: 1378). 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"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001445 SCV000021595 pathogenic COACH syndrome 2011-07-01 no assertion criteria provided literature only
OMIM RCV000001446 SCV000021596 pathogenic Joubert syndrome 6 2011-07-01 no assertion criteria provided literature only
UW Hindbrain Malformation Research Program,University of Washington RCV000001446 SCV000256494 pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research

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