ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1712T>C (p.Met571Thr)

dbSNP: rs587778109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554792 SCV000623247 uncertain significance Bloom syndrome 2017-03-07 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 (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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 133715). This sequence change replaces methionine with threonine at codon 571 of the BLM protein (p.Met571Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine.
ITMI RCV000120248 SCV000084397 not provided not specified 2013-09-19 no assertion provided reference population

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