ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) (rs121913659)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000763271 SCV000992792 pathogenic Mitochondrial complex I deficiency, nuclear type 1 2017-12-31 criteria provided, single submitter clinical testing
Courtagen Diagnostics Laboratory,Courtagen Life Sciences RCV000015100 SCV000236508 pathogenic Mitochondrial complex I deficiency 2014-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000015100 SCV000611219 likely pathogenic Mitochondrial complex I deficiency 2017-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763271 SCV000893915 likely pathogenic Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000200093 SCV000251947 pathogenic not provided 2018-12-06 criteria provided, single submitter clinical testing The T423M variant in the NDUFV1 gene has been reported previously in the compound heterozygous state in two siblings with a lethal form of infantile-onset mitochondrial disease (Schuelke et al., 1999). The T423M variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The T423M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Functional characterization of T423M in vitro demonstrates that this variant results in absent complex I activity (Varghese et al., 2015). We interpret T423M as a pathogenic variant.
OMIM RCV000735412 SCV000035357 pathogenic MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 1999-03-01 no assertion criteria provided literature only

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