ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6224C>G (p.Ala2075Gly)

dbSNP: rs2034085077
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330449 SCV001522130 uncertain significance KBG syndrome 2020-01-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences RCV004727152 SCV005335573 uncertain significance ANKRD11-related disorder 2024-06-08 no assertion criteria provided clinical testing The ANKRD11 c.6224C>G variant is predicted to result in the amino acid substitution p.Ala2075Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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