ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala)

dbSNP: rs1896972868
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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 RCV001347162 SCV001541410 uncertain significance Bloom syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1018 of the BLM protein (p.Thr1018Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. 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 RCV002447421 SCV002754135 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-06 criteria provided, single submitter clinical testing The p.T1018A variant (also known as c.3052A>G), located in coding exon 15 of the BLM gene, results from an A to G substitution at nucleotide position 3052. The threonine at codon 1018 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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. RCV001347162 SCV002090508 uncertain significance Bloom syndrome 2021-05-01 no assertion criteria provided clinical testing

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