ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2740G>A (p.Ala914Thr)

gnomAD frequency: 0.00001  dbSNP: rs372013507
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628649 SCV000749553 uncertain significance Bloom syndrome 2025-01-30 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 914 of the BLM protein (p.Ala914Thr). This variant is present in population databases (rs372013507, gnomAD 0.004%). 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: 524785). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BLM protein function with a negative 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 RCV001016461 SCV001177419 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-26 criteria provided, single submitter clinical testing The c.2740G>A (p.A914T) alteration is located in exon 14 (coding exon 13) of the BLM gene. This alteration results from a G to A substitution at nucleotide position 2740, causing the alanine (A) at amino acid position 914 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Illumina Laboratory Services, Illumina RCV000628649 SCV001273600 uncertain significance Bloom syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV005231196 SCV005875093 uncertain significance not provided 2024-08-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000628649 SCV002088115 uncertain significance Bloom syndrome 2017-11-15 no assertion criteria provided clinical testing

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