ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2126T>A (p.Val709Asp)

dbSNP: rs1896094774
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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 RCV004951442 SCV005544474 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-11 criteria provided, single submitter clinical testing The p.V709D variant (also known as c.2126T>A), located in coding exon 8 of the BLM gene, results from a T to A substitution at nucleotide position 2126. The valine at codon 709 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001279094 SCV001466157 uncertain significance Bloom syndrome 2020-09-04 no assertion criteria provided clinical testing

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