ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.491C>T (p.Thr164Ile)

dbSNP: rs1555594889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566234 SCV000668513 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-25 criteria provided, single submitter clinical testing The p.T164I variant (also known as c.491C>T), located in coding exon 6 of the BRCA1 gene, results from a C to T substitution at nucleotide position 491. The threonine at codon 164 is replaced by isoleucine, an amino acid with similar properties. In one study, this variant was detected in 1/146 Chinese patients with serous ovarian cancer (Li D et al. J. Exp. Clin. Cancer Res., 2013 Dec;32:102).This amino acid position is poorly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858262 SCV002148880 uncertain significance Hereditary breast ovarian cancer syndrome 2021-03-11 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 164 of the BRCA1 protein (p.Thr164Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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. This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 482962).
Fulgent Genetics, Fulgent Genetics RCV005010541 SCV005640301 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2024-04-16 criteria provided, single submitter clinical testing

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