ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.383T>C (p.Met128Thr) (rs1064793053)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482344 SCV000564715 uncertain significance not provided 2015-02-19 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.383T>C at the cDNA level, p.Met128Thr (M128T) at the protein level, and results in the change of a Methionine to a Threonine (ATG>ACG). Using alternate nomenclature, this variant would be defined as BRCA1 502T>C. This variant has not, to our knowledge, been published as a pathogenic variant or a benign polymorphism. BRCA1 Met128Thr was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Methionine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA1 Met128Thr occurs at a position that is conserved among mammals and is not located in a known functional domain (UniPort). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA1 Met128Thr is pathogenic or benign. We consider it to be a variant of uncertain significance.

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