ClinVar Miner

Submissions for variant NM_018127.7(ELAC2):c.273del (p.Gln92fs)

dbSNP: rs748788377
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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 RCV001970016 SCV002234290 pathogenic Combined oxidative phosphorylation defect type 17 2024-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln92Argfs*9) in the ELAC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELAC2 are known to be pathogenic (PMID: 27769300, 31045291). This variant is present in population databases (rs748788377, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with exertional rhabdomyolysis (PMID: 30094188). ClinVar contains an entry for this variant (Variation ID: 1455401). For these reasons, this variant has been classified as Pathogenic.

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