ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1683_1685TGA[6] (p.Asp566dup) (rs768095141)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572305 SCV000672988 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000698922 SCV000827613 uncertain significance Bloom syndrome 2019-12-11 criteria provided, single submitter clinical testing This variant, c.1695_1697dupTGA, results in the insertion of 1 amino acid(s) to the BLM protein (p.Asp566dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs776238917, ExAC 0.03%). This variant has not been reported in the literature in individuals with BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 485352). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. 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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