ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.2371G>A (p.Gly791Arg)

gnomAD frequency: 0.00005  dbSNP: rs543042477
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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 RCV001229550 SCV001401997 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RINT1-related conditions. This variant is present in population databases (rs543042477, gnomAD 0.05%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 791 of the RINT1 protein (p.Gly791Arg). ClinVar contains an entry for this variant (Variation ID: 956694). 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. 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.
Ambry Genetics RCV004032670 SCV002736391 uncertain significance not specified 2024-10-07 criteria provided, single submitter clinical testing The p.G791R variant (also known as c.2371G>A), located in coding exon 15 of the RINT1 gene, results from a G to A substitution at nucleotide position 2371. The glycine at codon 791 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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