ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2345A>G (p.Asn782Ser)

dbSNP: rs1896223925
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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 RCV001302141 SCV001491335 uncertain significance Bloom syndrome 2020-06-21 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BLM-related conditions. This sequence change replaces asparagine with serine at codon 782 of the BLM protein (p.Asn782Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine.

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