ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1592A>C (p.Lys531Thr)

dbSNP: rs1895966276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241236 SCV001414242 uncertain significance Bloom syndrome 2019-11-06 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 531 of the BLM protein (p.Lys531Thr). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and threonine.
Ambry Genetics RCV003346406 SCV004051507 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-03 criteria provided, single submitter clinical testing The p.K531T variant (also known as c.1592A>C), located in coding exon 6 of the BLM gene, results from an A to C substitution at nucleotide position 1592. The lysine at codon 531 is replaced by threonine, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003490151 SCV004241640 uncertain significance not specified 2023-12-23 criteria provided, single submitter clinical testing

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