ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.436T>C (p.Ser146Pro)

dbSNP: rs1555596290
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000499640 SCV000591268 uncertain significance Malignant tumor of breast no assertion criteria provided clinical testing The p.Ser146Pro variant has not been previously reported in the literature or by our laboratory. The p.Ser146 This residue is not conserved in mammals and computational analyses (PolyPhen2, SIFT, AlignGVGD) provide inconsistent predictions regarding the impact to the protein and this information is not very predictive of pathogenicity. In summary, based on the current information presented above, this variant is classified as variant of unknown significance.

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