ClinVar Miner

Submissions for variant NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) (rs775883520)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624166 SCV000741944 likely pathogenic Inborn genetic diseases 2016-11-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000198666 SCV000255217 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 242 of the TMEM67 protein (p.Asn242Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs775883520, ExAC 0.01%). This variant has been observed to segregate with Joubert syndrome in many families (PMID: 28719906, 26092869, 27491411). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
UW Hindbrain Malformation Research Program,University of Washington RCV000201726 SCV000256502 pathogenic Joubert syndrome 6 2015-02-23 criteria provided, single submitter research

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