ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3107G>A (p.Cys1036Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002326040 SCV002605994 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-20 criteria provided, single submitter clinical testing The p.C1036Y variant (also known as c.3107G>A), located in coding exon 15 of the BLM gene, results from a G to A substitution at nucleotide position 3107. The cysteine at codon 1036 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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