ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr)

dbSNP: rs763323767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464369 SCV000543328 uncertain significance Bloom syndrome 2023-11-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1405 of the BLM protein (p.Ile1405Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of BLM-related conditions (PMID: 31159747). ClinVar contains an entry for this variant (Variation ID: 405276). 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 tolerated. 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 RCV000708670 SCV000821907 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000708670 SCV002630084 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-08 criteria provided, single submitter clinical testing The p.I1405T variant (also known as c.4214T>C), located in coding exon 21 of the BLM gene, results from a T to C substitution at nucleotide position 4214. The isoleucine at codon 1405 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000464369 SCV002090669 uncertain significance Bloom syndrome 2021-05-06 no assertion criteria provided clinical testing

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