ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) (rs748943489)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548110 SCV000623324 uncertain significance Bloom syndrome 2019-12-10 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 1324 of the BLM protein (p.His1324Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs748943489, ExAC 0.003%). This variant has been reported in an individual with Bloom syndrome (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 454145). Experimental studies have shown that this variant preserves normal BLM protein function in reducing the levels of SCE (sister-chromatid exchanges) in patient-derived cells (PMID: 17407155), and has a sensitivity to DNA damaging agents comparable to wild-type in yeast cells (PMID: 23129629). This variant is also referred as H1324T in the literature (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.
GeneKor MSA RCV000708669 SCV000821906 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708669 SCV001183184 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-13 criteria provided, single submitter clinical testing Insufficient evidence

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