ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.227C>T (p.Pro76Leu)

gnomAD frequency: 0.00001  dbSNP: rs774515970
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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 RCV001484883 SCV001689307 likely benign Bloom syndrome 2024-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449283 SCV002732152 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-04 criteria provided, single submitter clinical testing The p.P76L variant (also known as c.227C>T), located in coding exon 2 of the BLM gene, results from a C to T substitution at nucleotide position 227. The proline at codon 76 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. 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.

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