ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg)

gnomAD frequency: 0.00004  dbSNP: rs776323741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001263411 SCV001441455 uncertain significance Intellectual disability 2020-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491869 SCV002800965 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 9 2021-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537658 SCV003297541 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the NDUFS6 mRNA. The next in-frame methionine is located at codon 5. This variant is present in population databases (rs776323741, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NDUFS6-related conditions. ClinVar contains an entry for this variant (Variation ID: 983422). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002537658 SCV005332666 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Initiation codon variant in a gene for which loss of function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

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