ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2980A>G (p.Thr994Ala)

dbSNP: rs1060500632
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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 RCV000466196 SCV000543325 uncertain significance Bloom syndrome 2018-05-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 994 of the BLM protein (p.Thr994Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. 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: 405274). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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