ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1027T>A (p.Ser343Thr)

dbSNP: rs776620199
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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 RCV001307514 SCV001496930 uncertain significance Bloom syndrome 2020-02-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 343 of the BLM protein (p.Ser343Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. 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.
Natera, Inc. RCV001307514 SCV002090003 uncertain significance Bloom syndrome 2018-09-06 no assertion criteria provided clinical testing

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