ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.67dup (p.Ala23fs)

dbSNP: rs1554796655
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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 RCV000551220 SCV000656652 pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2018-09-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in COQ4 are known to be pathogenic (PMID: 25658047, 26185144). This sequence change inserts 1 nucleotide in exon 1 of the COQ4 mRNA (c.67dupG), causing a frameshift at codon 23. This creates a premature translational stop signal (p.Ala23Glyfs*8) and is expected to result in an absent or disrupted protein product.

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