ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1469C>G (p.Pro490Arg) (rs878853553)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000232143 SCV000798558 uncertain significance Bloom syndrome 2018-03-13 criteria provided, single submitter clinical testing
Invitae RCV000232143 SCV000283114 uncertain significance Bloom syndrome 2018-01-29 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 490 of the BLM protein (p.Pro490Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 236802). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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