ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.83T>A (p.Phe28Tyr)

gnomAD frequency: 0.00002  dbSNP: rs905716566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930668 SCV002193314 uncertain significance not provided 2021-11-28 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 28 of the NDUFS6 protein (p.Phe28Tyr). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NDUFS6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002503588 SCV002814285 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 9 2021-07-12 criteria provided, single submitter clinical testing

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