ClinVar Miner

Submissions for variant NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)

dbSNP: rs398124650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000523452 SCV000616608 likely pathogenic Long QT syndrome 15 2017-06-09 criteria provided, single submitter clinical testing
Invitae RCV000532708 SCV000629357 uncertain significance Long QT syndrome 1 2022-02-10 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Asp134 amino acid residue in CALM2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24917665). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 448971). This missense change has been observed in individuals with long QT syndrome (PMID: 32383558; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 134 of the CALM2 protein (p.Asp134Asn).

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