ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2923C>G (p.Gln975Glu)

gnomAD frequency: 0.00001  dbSNP: rs757148522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812879 SCV000953209 uncertain significance Bloom syndrome 2022-09-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 975 of the BLM protein (p.Gln975Glu). This variant is present in population databases (rs757148522, gnomAD 0.03%). 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: 656453). 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. 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.
Natera, Inc. RCV000812879 SCV001461110 uncertain significance Bloom syndrome 2019-01-17 no assertion criteria provided clinical testing

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