ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.242del (p.Glu81fs)

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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 RCV003463110 SCV004197777 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2023-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003699111 SCV004460518 pathogenic not provided 2023-04-19 criteria provided, single submitter clinical testing 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 create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with NDUFS6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu81Glyfs*4) in the NDUFS6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NDUFS6 are known to be pathogenic (PMID: 15372108).

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