ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4220G>C (p.Arg1407Thr)

dbSNP: rs557057587
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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 RCV002014384 SCV002301980 uncertain significance Bloom syndrome 2023-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 1407 of the BLM protein (p.Arg1407Thr). 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. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1511147).
Ambry Genetics RCV002331622 SCV002630106 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-15 criteria provided, single submitter clinical testing The p.R1407T variant (also known as c.4220G>C), located in coding exon 21 of the BLM gene, results from a G to C substitution at nucleotide position 4220. The arginine at codon 1407 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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