ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4198G>A (p.Ala1400Thr)

gnomAD frequency: 0.00001  dbSNP: rs370588118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359611 SCV001555486 uncertain significance Bloom syndrome 2024-11-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1400 of the BLM protein (p.Ala1400Thr). This variant is present in population databases (rs370588118, gnomAD 0.0009%). 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: 1051554). 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 disruptive. 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 RCV002329350 SCV002627087 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-31 criteria provided, single submitter clinical testing The p.A1400T variant (also known as c.4198G>A), located in coding exon 21 of the BLM gene, results from a G to A substitution at nucleotide position 4198. The alanine at codon 1400 is replaced by threonine, 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.

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