ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3731T>C (p.Val1244Ala)

dbSNP: rs771117920
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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 RCV002043894 SCV002312692 uncertain significance Bloom syndrome 2021-03-26 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: 20639533). 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 valine with alanine at codon 1244 of the BLM protein (p.Val1244Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine.

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