ClinVar Miner

Submissions for variant NM_000370.3(TTPA):c.355A>G (p.Ile119Val)

gnomAD frequency: 0.00006  dbSNP: rs766200402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901463 SCV001045835 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000901463 SCV004229416 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster yielded discordant predictions regarding whether this amino acid change is damaging to the protein.
Natera, Inc. RCV001275638 SCV001460928 uncertain significance Familial isolated deficiency of vitamin E 2020-02-13 no assertion criteria provided clinical testing

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