ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr) (rs1555419713)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548596 SCV000623224 uncertain significance Bloom syndrome 2017-10-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 378 of the BLM protein (p.His378Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is reported as two separate single-nucleotide changes in population databases (c.1132C>T, ExAC 0.01% and c.1134C>T, ExAC 0.01%). However, in the read data for the 2 individuals displayed in the ExAC browser, these two variants are in cis. This recapitulates the variant observed here (c.1132_1134delinsTAT) and indicates that this variant is very likely present in the population databases at 0.01%. This variant has not been reported in the literature in individuals with BLM-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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