ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.2255A>C (p.Gln752Pro)

dbSNP: rs919181672
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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 RCV000794981 SCV000934419 uncertain significance not provided 2022-12-15 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 641684). This missense change has been observed in individual(s) with breast or ovarian cancer (PMID: 27544226). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 752 of the RINT1 protein (p.Gln752Pro).
Ambry Genetics RCV004027511 SCV002733479 uncertain significance not specified 2023-05-18 criteria provided, single submitter clinical testing The p.Q752P variant (also known as c.2255A>C), located in coding exon 15 of the RINT1 gene, results from an A to C substitution at nucleotide position 2255. The glutamine at codon 752 is replaced by proline, an amino acid with similar properties. In a study of breast or ovarian cancer-affected cases and cancer-free controls in Australia, this variant was reported in 1/2024 cases and 0/1886 controls (Li N et al. Breast Cancer Res Treat, 2016 09;159:385-92). In another study, this variant was reported in 4/60,466 breast cancer cases and in 5/53,461 controls (Dorling et al. N Engl J Med. 2021 02;384:428-439). This amino acid position is well conserved in available vertebrate species. 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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