ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.329A>G (p.Asp110Gly)

gnomAD frequency: 0.00001  dbSNP: rs1292239409
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019773 SCV001181177 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-20 criteria provided, single submitter clinical testing The p.D110G variant (also known as c.329A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 329. The aspartic acid at codon 110 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well 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.
Invitae RCV001341837 SCV001535730 uncertain significance Bloom syndrome 2022-09-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 110 of the BLM protein (p.Asp110Gly). 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: 823490). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001805974 SCV002050595 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Natera, Inc. RCV001341837 SCV002089911 uncertain significance Bloom syndrome 2020-09-28 no assertion criteria provided clinical testing

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