ClinVar Miner

Submissions for variant NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)

gnomAD frequency: 0.00001  dbSNP: rs121434508
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001699096 SCV002114487 pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs121434508, gnomAD 0.02%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 410). This premature translational stop signal has been observed in individual(s) with autosomal recessive optic atrophy (PMID: 19327736, 30369941). This sequence change creates a premature translational stop signal (p.Arg55*) in the TMEM126A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM126A are known to be pathogenic (PMID: 19327736).
GeneDx RCV001699096 SCV003921704 pathogenic not provided 2022-09-27 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30369941, 28492530, 25525159, 19327736, 20405026, 22815638, 31589614, 33841295, 32855858, 36071901)
Revvity Omics, Revvity RCV000000438 SCV004238381 pathogenic Autosomal recessive optic atrophy, OPA7 type 2023-03-14 criteria provided, single submitter clinical testing
OMIM RCV000000438 SCV000020587 pathogenic Autosomal recessive optic atrophy, OPA7 type 2012-01-01 no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV001699096 SCV001925633 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699096 SCV001927975 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699096 SCV001952949 pathogenic not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003914788 SCV004728218 pathogenic TMEM126A-related disorder 2024-02-16 no assertion criteria provided clinical testing The TMEM126A c.163C>T variant is predicted to result in premature protein termination (p.Arg55*). This variant has been reported in the homozygous state in individuals with optic atrophy from a large multiplex consanguineous Algerian family along with three additional families originating from the same geographic region (Hanein et al. 2009. PubMed ID: 19327736). This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as pathogenic.

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