ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr)

dbSNP: rs1897215421
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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 RCV001243982 SCV001417174 uncertain significance Bloom syndrome 2024-04-03 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 1148 of the BLM protein (p.Lys1148Thr). This variant is not present in population databases (gnomAD no frequency). 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: 968770). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BLM protein function with a positive predictive value of 80%. 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 RCV002451595 SCV002615389 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-09 criteria provided, single submitter clinical testing The p.K1148T variant (also known as c.3443A>C), located in coding exon 17 of the BLM gene, results from an A to C substitution at nucleotide position 3443. The lysine at codon 1148 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001243982 SCV002090569 uncertain significance Bloom syndrome 2019-10-04 no assertion criteria provided clinical testing

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