Submissions for variant NM_007294.3(BRCA1):c.5571G>T (p.Gln1857His) (rs28897699)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235503	SCV000294106	uncertain significance	not provided	2018-07-23	criteria provided, single submitter	clinical testing	This variant is denoted BRCA1 c.5571G>T at the cDNA level, p.Gln1857His (Q1857H) at the protein level, and results in the change of a Glutamine to a Histidine (CAG>CAT). Using alternate nomenclature, this variant would be defined as BRCA1 5690G>T. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. BRCA1 Gln1857His was not observed in large population cohorts (Lek 2016). This variant is located in a region known to interact with multiple proteins (Paul 2014). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA1 Gln1857His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color	RCV000773214	SCV000906806	uncertain significance	Hereditary cancer-predisposing syndrome	2018-10-30	criteria provided, single submitter	clinical testing

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