ClinVar Miner

Submissions for variant NM_002653.5(PITX1):c.513C>G (p.Tyr171Ter)

dbSNP: rs370433085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760809 SCV000890704 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 144 amino acids are lost, and other loss-of-function variants have been reported downstream at GeneDx; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Institute of Human Genetics, University of Leipzig Medical Center RCV003992383 SCV004812148 uncertain significance Clubfoot 2022-08-25 criteria provided, single submitter clinical testing Criteria applied: PVS1_MOD,PS4_SUP,PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV000760809 SCV005749646 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr171*) in the PITX1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 144 amino acid(s) of the PITX1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PITX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 620433). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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