ClinVar Miner

Submissions for variant NM_001352186.2(ANKS1B):c.2293A>G (p.Ser765Gly)

gnomAD frequency: 0.00087  dbSNP: rs200534823
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953484 SCV001100057 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029847 SCV003539405 uncertain significance not specified 2022-11-01 criteria provided, single submitter clinical testing The c.2293A>G (p.S765G) alteration is located in exon 13 (coding exon 13) of the ANKS1B gene. This alteration results from a A to G substitution at nucleotide position 2293, causing the serine (S) at amino acid position 765 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003970752 SCV004783839 likely benign ANKS1B-related disorder 2023-07-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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