ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4685C>T (p.Pro1562Leu)

dbSNP: rs80357096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV003584533 SCV004360159 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-07 criteria provided, single submitter clinical testing This missense variant replaces proline with leucine at codon 1562 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112384 SCV000145159 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 no assertion criteria provided clinical testing

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