ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1088C>T (p.Ala363Val)

dbSNP: rs1567040460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685874 SCV000813374 uncertain significance Bloom syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 363 of the BLM protein (p.Ala363Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002422467 SCV002725450 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-03 criteria provided, single submitter clinical testing The p.A363V variant (also known as c.1088C>T) is located in coding exon 5 of the BLM gene. The alanine at codon 363 is replaced by valine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 5. 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.
Revvity Omics, Revvity RCV000685874 SCV003831465 uncertain significance Bloom syndrome 2022-03-28 criteria provided, single submitter clinical testing

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