ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.992A>C (p.Lys331Thr)

gnomAD frequency: 0.00001  dbSNP: rs1351404875
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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 RCV000690690 SCV000818389 uncertain significance Bloom syndrome 2024-05-08 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 331 of the BLM protein (p.Lys331Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 569932). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV001019894 SCV001181306 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-14 criteria provided, single submitter clinical testing The p.K331T variant (also known as c.992A>C), located in coding exon 4 of the BLM gene, results from an A to C substitution at nucleotide position 992. The lysine at codon 331 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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. RCV000690690 SCV002089996 uncertain significance Bloom syndrome 2018-09-26 no assertion criteria provided clinical testing

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