ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4222C>A (p.Pro1408Thr)

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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 RCV004521463 SCV005022991 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-10 criteria provided, single submitter clinical testing The p.P1408T variant (also known as c.4222C>A), located in coding exon 21 of the BLM gene, results from a C to A substitution at nucleotide position 4222. The proline at codon 1408 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004759412 SCV005368926 uncertain significance not provided 2023-06-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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