ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4789A>G (p.Thr1597Ala)

dbSNP: rs80357187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001346129 SCV001540304 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1597 of the BRCA1 protein (p.Thr1597Ala). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with BRCA1-related conditions (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 55288). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. 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 RCV002336185 SCV002634614 likely benign Hereditary cancer-predisposing syndrome 2020-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112399 SCV000145180 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2003-12-23 no assertion criteria provided clinical testing

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