ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2185T>G (p.Ser729Ala)

dbSNP: rs2151162523
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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 RCV001883895 SCV002138289 uncertain significance Bloom syndrome 2021-03-18 criteria provided, single submitter clinical testing 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BLM protein function (PMID: 25901030). 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 alanine at codon 729 of the BLM protein (p.Ser729Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine.

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