ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.11dup (p.Glu5fs)

dbSNP: rs886037607
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851523 SCV002234321 pathogenic Cernunnos-XLF deficiency 2021-03-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with NHEJ1 deficiency related disease (PMID: 16439205). ClinVar contains an entry for this variant (Variation ID: 985). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu5Glyfs*43) 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).
OMIM RCV000001036 SCV000021186 pathogenic Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency 2006-05-19 no assertion criteria provided literature only

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