ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)

gnomAD frequency: 0.00001  dbSNP: rs770255643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000553465 SCV000623250 benign Bloom syndrome 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013273 SCV001173840 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-28 criteria provided, single submitter clinical testing The p.P609T variant (also known as c.1825C>A), located in coding exon 6 of the BLM gene, results from a C to A substitution at nucleotide position 1825. The proline at codon 609 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is not 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.
Natera, Inc. RCV000553465 SCV001461827 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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