ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter)

dbSNP: rs118204453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000319029 SCV000329430 pathogenic not provided 2022-09-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24780557, 20597108, 21721379, 25525159, 16439204, 27281794, 24511403, 30898087, 30503522, 32482412, 32445296, 32888943, 33888552, 28729231, 30291363, 28211887, 35656589, 35303369, 28369633, 32265901)
Labcorp Genetics (formerly Invitae), Labcorp RCV000001034 SCV004293977 pathogenic Cernunnos-XLF deficiency 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg178*) in the NHEJ1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NHEJ1 are known to be pathogenic (PMID: 16439204, 20597108). This variant is present in population databases (rs118204453, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with NHEJ1-related conditions (PMID: 16439204, 21721379). ClinVar contains an entry for this variant (Variation ID: 983). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001034 SCV000021184 pathogenic Cernunnos-XLF deficiency 2006-01-27 no assertion criteria provided literature only

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