ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4323C>A (p.Asp1441Glu)

dbSNP: rs1057523168
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222969 SCV001395095 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 951122). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 1441 of the BRCA1 protein (p.Asp1441Glu).

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