ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3359T>A (p.Val1120Asp) (rs1361427704)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000579400 SCV000683100 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588904 SCV000699025 uncertain significance not provided 2017-07-03 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3359T>A (p.Val1120Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a missense change that does not lie within a known functional domain (InterPro). 4/5 in silico tools predict a damaging outcome for this variant. This variant is absent from the large control database ExAC (0/121134 control chromosomes). In the literature, the variant has been identified in a French family with breast and/or ovarian cancer without strong evidence for or against pathogenicity (Anczukow_Genes Chromosomes and Cancer_2008). Taken together, this variant is classified as VUS until additional evidence becomes available.
Invitae RCV001035931 SCV001199271 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 1120 of the BRCA1 protein (p.Val1120Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with breast and/or ovarian cancer (PMID: 18273839). ClinVar contains an entry for this variant (Variation ID: 489715). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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