ClinVar Miner

Submissions for variant NM_000416.3(IFNGR1):c.805del (p.Tyr269fs)

dbSNP: rs2114462231
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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 RCV001993343 SCV002234456 pathogenic Disseminated atypical mycobacterial infection 2022-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr269Ilefs*8) in the IFNGR1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 221 amino acid(s) of the IFNGR1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Mendelian susceptibility to mycobacterial disease (PMID: 24220318). This variant disrupts the region of the IFNGR1 protein between p.Phe258 and p.Asn274. Other variants in this region have been observed in individuals with autosomal dominant IFNGR1-related conditions (PMID: 10192386, 15589309, 17513528, 18171304, 20015550), which suggests that this may be a clinically significant region of the protein.

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