ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2622G>A (p.Val874=)

dbSNP: rs760261440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093064 SCV002380178 likely benign Bloom syndrome 2023-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365689 SCV004072537 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-14 criteria provided, single submitter clinical testing The c.2622G>A variant (also known as p.V874V), located in coding exon 12 of the BLM gene, results from a G to A substitution at nucleotide position 2622. This nucleotide substitution does not change the valine at codon 874. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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