ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.614_615del (p.Lys205fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338085 SCV004046988 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 criteria provided, single submitter clinical testing The frameshift variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.0004%) in the gnomAD and novel in 1000 genome database. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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