ClinVar Miner

Submissions for variant NM_005029.4(PITX3):c.640_656del (p.Ala214fs)

dbSNP: rs1411557416
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002526156 SCV000644789 likely pathogenic not provided 2023-07-21 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this premature translational stop signal affects PITX3 function (PMID: 30816539). This variant is present in population databases (no rsID available, gnomAD 0.01%). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 468252). This premature translational stop signal has been observed in individuals with congenital cataracts and/or Peter's anomalies (PMID: 30816539; Invitae). This sequence change creates a premature translational stop signal (p.Ala214Argfs*42) in the PITX3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 89 amino acid(s) of the PITX3 protein.

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