ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2321A>G (p.Asn774Ser)

gnomAD frequency: 0.00001  dbSNP: rs1245556905
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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 RCV001066915 SCV001231939 uncertain significance Bloom syndrome 2023-08-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLM-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 774 of the BLM protein (p.Asn774Ser). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 860585). 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. 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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