ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3191A>T (p.Asp1064Val)

dbSNP: rs367543032
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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 RCV004519129 SCV005023269 likely pathogenic Hereditary cancer-predisposing syndrome 2023-12-20 criteria provided, single submitter clinical testing The p.D1064V variant (also known as c.3191A>T), located in coding exon 15 of the BLM gene, results from an A to T substitution at nucleotide position 3191. The aspartic acid at codon 1064 is replaced by valine, an amino acid with highly dissimilar properties. This variant has been identified likely in trans with a BLM pathogenic variant in an individual diagnosed with Bloom syndrome (German J et al. Hum Mutat, 2007 Aug;28:743-53). Functional studies suggest that this variant causes sensitivity to DNA damaging agents (Mirzaei H et al. Proc Natl Acad Sci U S A, 2012 Nov;109:19357-62). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005015170 SCV005640471 likely pathogenic Bloom syndrome 2024-03-23 criteria provided, single submitter clinical testing

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