ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.1690C>T (p.Gln564Ter)

gnomAD frequency: 0.00001  dbSNP: rs755068980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679984 SCV000807418 pathogenic Mitochondrial complex IV deficiency, nuclear type 1 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory homozygous in a 13-year-old female with optic atrophy & distal spasticity
Fulgent Genetics, Fulgent Genetics RCV005027833 SCV005655726 likely pathogenic Combined oxidative phosphorylation deficiency 44 2024-03-12 criteria provided, single submitter clinical testing

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