ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4304A>T (p.Asp1435Val)

dbSNP: rs876660809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815557 SCV000956018 uncertain significance Hereditary breast ovarian cancer syndrome 2018-11-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with valine at codon 1435 of the BRCA1 protein (p.Asp1435Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. 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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