ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.2149T>A (p.Ser717Thr)

dbSNP: rs1060503047
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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 RCV001948114 SCV002194305 uncertain significance not provided 2021-11-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RINT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 717 of the RINT1 protein (p.Ser717Thr).
Ambry Genetics RCV004043572 SCV002731207 uncertain significance not specified 2022-06-15 criteria provided, single submitter clinical testing The p.S717T variant (also known as c.2149T>A), located in coding exon 14 of the RINT1 gene, results from a T to A substitution at nucleotide position 2149. The serine at codon 717 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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