ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.10528G>T (p.Ala3510Ser)

gnomAD frequency: 0.00001  dbSNP: rs1303634187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547660 SCV001767420 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Located in exon 38, which is reported as being expressed in a brain-specific transcript (Otto et al, 1991; Cunha et al, 2008; Wu et al, 2015)
Labcorp Genetics (formerly Invitae), Labcorp RCV001882622 SCV002315060 uncertain significance Long QT syndrome 2022-07-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1188019). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3510 of the ANK2 protein (p.Ala3510Ser).
Ambry Genetics RCV002388583 SCV002703280 uncertain significance Cardiovascular phenotype 2023-10-14 criteria provided, single submitter clinical testing The c.10528G>T (p.A3510S) alteration is located in exon 38 (coding exon 38) of the ANK2 gene. This alteration results from a G to T substitution at nucleotide position 10528, causing the alanine (A) at amino acid position 3510 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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