ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.2336T>C (p.Ile779Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004062724 SCV002738065 uncertain significance not specified 2022-05-21 criteria provided, single submitter clinical testing The p.I779T variant (also known as c.2336T>C), located in coding exon 15 of the RINT1 gene, results from a T to C substitution at nucleotide position 2336. The isoleucine at codon 779 is replaced by threonine, an amino acid with similar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003738266 SCV004559142 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 779 of the RINT1 protein (p.Ile779Thr). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RINT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1789784). 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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