ClinVar Miner

Submissions for variant NM_018480.7(TMEM126B):c.137del (p.Ala46fs)

gnomAD frequency: 0.00001  dbSNP: rs764565613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329079 SCV001520394 pathogenic Mitochondrial complex 1 deficiency, nuclear type 29 2019-01-20 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002538418 SCV003254737 pathogenic not provided 2023-04-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 997635). This variant has not been reported in the literature in individuals affected with TMEM126B-related conditions. This variant is present in population databases (rs764565613, gnomAD 0.09%). This sequence change creates a premature translational stop signal (p.Ala46Glufs*9) in the TMEM126B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM126B are known to be pathogenic (PMID: 27374774).

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