Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
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- |
RCV001775459 | SCV002500926 | likely pathogenic | Thrombocytopenia 2 | criteria provided, single submitter | clinical testing | ||
Invitae | 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. |