ClinVar Miner

Submissions for variant NM_020987.5(ANK3):c.2902G>C (p.Asp968His)

dbSNP: rs730882195
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000162096 SCV000923560 uncertain significance Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2019-01-01 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269525 SCV001449570 pathogenic not provided 2014-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001269525 SCV002116852 uncertain significance not provided 2022-09-19 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ANK3 protein function. ClinVar contains an entry for this variant (Variation ID: 162094). This variant has not been reported in the literature in individuals affected with ANK3-related conditions. This variant is present in population databases (rs730882195, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 968 of the ANK3 protein (p.Asp968His).
Clinical Genetics and Genomics, Karolinska University Hospital RCV000162096 SCV000195550 likely pathogenic Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 2014-11-24 flagged submission clinical testing

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