ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2407T>A (p.Trp803Arg)

dbSNP: rs148394770
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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 RCV002001049 SCV002267917 uncertain significance Bloom syndrome 2021-04-24 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 803 of the BLM protein (p.Trp803Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. 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 conditions. Experimental studies have shown that this variant affects BLM protein function (PMID: 23129629). 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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