ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.781C>T (p.His261Tyr)

dbSNP: rs1895640326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223433 SCV001395582 uncertain significance Bloom syndrome 2022-02-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 261 of the BLM protein (p.His261Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 951499). 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: "Possibly Damaging"; 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.
Ambry Genetics RCV004951354 SCV005544461 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-05 criteria provided, single submitter clinical testing The p.H261Y variant (also known as c.781C>T), located in coding exon 2 of the BLM gene, results from a C to T substitution at nucleotide position 781. The histidine at codon 261 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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