ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.601G>A (p.Asp201Asn)

dbSNP: rs80357109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003162423 SCV003856612 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-07 criteria provided, single submitter clinical testing The p.D201N variant (also known as c.601G>A), located in coding exon 8 of the BRCA1 gene, results from a G to A substitution at nucleotide position 601. The aspartic acid at codon 201 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112752 SCV000145641 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing

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