ClinVar Miner

Submissions for variant NM_001354930.2(RIPK1):c.1862G>A (p.Arg621Gln)

gnomAD frequency: 0.00005  dbSNP: rs780239674
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336606 SCV001530033 uncertain significance Immunodeficiency 57 2018-11-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003355404 SCV004061766 uncertain significance Inborn genetic diseases 2023-08-15 criteria provided, single submitter clinical testing The c.1862G>A (p.R621Q) alteration is located in exon 10 (coding exon 10) of the RIPK1 gene. This alteration results from a G to A substitution at nucleotide position 1862, causing the arginine (R) at amino acid position 621 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003669235 SCV004384149 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 621 of the RIPK1 protein (p.Arg621Gln). This variant is present in population databases (rs780239674, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RIPK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1034027). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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