ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.662C>A (p.Thr221Asn)

dbSNP: rs1407804704
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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 RCV001236993 SCV001409736 uncertain significance Bloom syndrome 2019-09-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BLM-related conditions. This sequence change replaces threonine with asparagine at codon 221 of the BLM protein (p.Thr221Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine.

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