ClinVar Miner

Submissions for variant NM_000631.5(NCF4):c.477C>T (p.Ser159=)

gnomAD frequency: 0.00002  dbSNP: rs752773971
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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 RCV000809812 SCV000949989 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 2018-12-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs752773971, ExAC 0.01%). This sequence change affects codon 159 of the NCF4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NCF4 protein. This variant has not been reported in the literature in individuals with NCF4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.

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