ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met)

gnomAD frequency: 0.00003  dbSNP: rs141758325
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002480914 SCV002783459 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 16 2022-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537856 SCV003564468 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.617C>T (p.T206M) alteration is located in exon 7 (coding exon 7) of the NDUFAF5 gene. This alteration results from a C to T substitution at nucleotide position 617, causing the threonine (T) at amino acid position 206 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV002480914 SCV005328733 likely benign Mitochondrial complex 1 deficiency, nuclear type 16 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Natera, Inc. RCV001279573 SCV001466670 uncertain significance Leigh syndrome 2020-05-25 no assertion criteria provided clinical testing

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