ClinVar Miner

Submissions for variant NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter)

gnomAD frequency: 0.00002  dbSNP: rs780613456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001775459 SCV002012393 uncertain significance Thrombocytopenia 2 2021-09-09 criteria provided, single submitter clinical testing The ANKRD26 c.1035_1036insT (p.Lys346Ter) change creates a premature stop codon, however the functional significance of this change is currently unknown. This variant has a maximum subpopulation frequency of 0.0026% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/10-27366308-T-TA). To our knowledge, this variant has not been reported in individuals with ANKRD26-related thrombocytopenia. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: no criteria met.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001775459 SCV002500926 likely pathogenic Thrombocytopenia 2 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541047 SCV003483466 uncertain significance not provided 2023-06-28 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. ClinVar contains an entry for this variant (Variation ID: 1320286). This premature translational stop signal has been observed in individual(s) with clinical features of ANKRD26-related conditions (PMID: 34355501). This variant is present in population databases (rs780613456, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Lys346*) in the ANKRD26 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ANKRD26 cause disease.

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