ClinVar Miner

Submissions for variant NM_001354930.2(RIPK1):c.528_532del (p.Arg177fs)

dbSNP: rs2113607375
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001947094 SCV002242467 pathogenic not provided 2021-07-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg177Serfs*6) in the RIPK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RIPK1 are known to be pathogenic (PMID: 31213653). This variant has not been reported in the literature in individuals with RIPK1-related conditions. For these reasons, this variant has been classified as Pathogenic.
3billion RCV003152783 SCV003841433 pathogenic Immunodeficiency 57 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with RIPK1 related disorder (ClinVar ID: VCV001457300). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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