ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.32_33dup (p.Asn12Ter)

gnomAD frequency: 0.00001  dbSNP: rs769666581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002222768 SCV002499775 likely pathogenic not provided 2023-09-21 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); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002222768 SCV003512209 pathogenic not provided 2023-06-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn12*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1676852). This variant has not been reported in the literature in individuals affected with NDUFS6-related conditions. This variant is present in population databases (rs769666581, gnomAD 0.009%).
Baylor Genetics RCV003475305 SCV004200035 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2024-02-28 criteria provided, single submitter clinical testing

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