ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3900C>G (p.Ser1300Arg)

dbSNP: rs769564626
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950331 SCV002218206 uncertain significance Bloom syndrome 2023-07-03 criteria provided, single submitter clinical testing 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 not expected to disrupt BLM protein function. This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1300 of the BLM protein (p.Ser1300Arg). This variant is present in population databases (rs769564626, gnomAD 0.01%). 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: 1440157). 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.

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