ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.1519G>A (p.Glu507Lys)

gnomAD frequency: 0.00005  dbSNP: rs143184349
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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 RCV000476487 SCV000551651 uncertain significance not provided 2024-04-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 507 of the RINT1 protein (p.Glu507Lys). This variant is present in population databases (rs143184349, gnomAD 0.008%). This missense change has been observed in individual(s) with breast cancer and/or ovarian cancer, and in a healthy individual in two case-control studies (PMID: 25050558, 27544226). ClinVar contains an entry for this variant (Variation ID: 410787). 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 tolerated. 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.
Ambry Genetics RCV004022817 SCV002708147 likely benign not specified 2020-07-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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