ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5101C>A (p.Leu1701Met) (rs910555398)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469376 SCV000549265 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-08-02 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 1701 of the BRCA1 protein (p.Leu1701Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Integrated Genetics/Laboratory Corporation of America RCV000586375 SCV000699201 uncertain significance not provided 2016-08-29 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.5101C>A (p.Leu1701Met) variant involves the alteration of a conserved nucleotide. Leu1701 is a conserved amino acid located in the BRCT domain, and 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is absent in 120448 control chromosomes, and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Color RCV000775750 SCV000910184 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-14 criteria provided, single submitter clinical testing
Brotman Baty Institute,University of Washington RCV001072254 SCV001237601 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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