ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3305A>G (p.His1102Arg)

gnomAD frequency: 0.00002  dbSNP: rs778994524
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693515 SCV000821386 uncertain significance Bloom syndrome 2022-02-18 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1102 of the BLM protein (p.His1102Arg). This variant is present in population databases (rs778994524, gnomAD 0.02%). 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: 572192). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.
Ambry Genetics RCV003303137 SCV003999938 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-14 criteria provided, single submitter clinical testing The p.H1102R variant (also known as c.3305A>G), located in coding exon 16 of the BLM gene, results from an A to G substitution at nucleotide position 3305. The histidine at codon 1102 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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. RCV000693515 SCV002090542 uncertain significance Bloom syndrome 2021-04-28 no assertion criteria provided clinical testing

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