ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3958C>A (p.Pro1320Thr)

dbSNP: rs1596273579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818087 SCV000958682 uncertain significance Bloom syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 1320 of the BLM protein (p.Pro1320Thr). The proline residue is weakly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002352442 SCV002619501 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-07 criteria provided, single submitter clinical testing The p.P1320T variant (also known as c.3958C>A), located in coding exon 20 of the BLM gene, results from a C to A substitution at nucleotide position 3958. The proline at codon 1320 is replaced by threonine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6496 samples (12992 alleles) with coverage at this position.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.

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