ClinVar Miner

Submissions for variant NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys)

gnomAD frequency: 0.00001  dbSNP: rs387907222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000029181 SCV000958962 uncertain significance TMEM165-congenital disorder of glycosylation 2021-08-31 criteria provided, single submitter clinical testing
GeneDx RCV002251428 SCV002522096 likely pathogenic not provided 2021-11-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Observed in either the homozygous or heterozygous state in an individual with CDG-II (Ashikov et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate reduced calcium/manganese transport capacity, but cellular localization and glycosylation capability similar to wild-type in vitro (Rosnoblet et al., 2013; Stribny et al., 2020); This variant is associated with the following publications: (PMID: 27401145, 23575229, 23569283, 32599014, 22683087, 29878199, 32047108)
OMIM RCV000029181 SCV000051826 pathogenic TMEM165-congenital disorder of glycosylation 2012-07-13 no assertion criteria provided literature only

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