ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.3488A>G (p.Gln1163Arg)

gnomAD frequency: 0.00009  dbSNP: rs746416574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799358 SCV001431211 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2019-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001879929 SCV002317648 uncertain significance not provided 2022-05-25 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 977447). This variant has not been reported in the literature in individuals affected with ANK3-related conditions. This variant is present in population databases (rs746416574, gnomAD 0.006%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1163 of the ANK3 protein (p.Gln1163Arg).
Ambry Genetics RCV004035348 SCV004898413 uncertain significance Inborn genetic diseases 2023-12-15 criteria provided, single submitter clinical testing The c.3488A>G (p.Q1163R) alteration is located in exon 29 (coding exon 29) of the ANK3 gene. This alteration results from a A to G substitution at nucleotide position 3488, causing the glutamine (Q) at amino acid position 1163 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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