ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.9055A>G (p.Met3019Val)

gnomAD frequency: 0.00005  dbSNP: rs370499072
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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 RCV000472799 SCV000545138 uncertain significance Long QT syndrome 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3019 of the ANK2 protein (p.Met3019Val). This variant is present in population databases (rs370499072, gnomAD 0.02%). This missense change has been observed in individual(s) with autism spectrum disorder (PMID: 28263302). ClinVar contains an entry for this variant (Variation ID: 406469). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine 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.
Ambry Genetics RCV002374761 SCV002687678 likely benign Cardiovascular phenotype 2019-01-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002506110 SCV002814456 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2021-08-15 criteria provided, single submitter clinical testing
GeneDx RCV004701494 SCV005201437 uncertain significance not provided 2024-02-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28263302, 31785789)

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