ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)

dbSNP: rs878853553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232143 SCV000283114 uncertain significance Bloom syndrome 2022-10-20 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 236802). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 490 of the BLM protein (p.Pro490Arg).
Counsyl RCV000232143 SCV000798558 uncertain significance Bloom syndrome 2018-03-13 criteria provided, single submitter clinical testing
Mendelics RCV002247670 SCV002518146 benign not specified 2022-05-04 criteria provided, single submitter clinical testing

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