ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.264del (p.Thr90fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005189741 SCV005828991 pathogenic Multiple mitochondrial dysfunctions syndrome 1 2024-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr90Profs*20) in the NFU1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NFU1 are known to be pathogenic (PMID: 25758857, 28470589, 28803783). This variant is present in population databases (rs758059871, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NFU1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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