ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.657T>G (p.Ile219Met)

dbSNP: rs146680997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001900984 SCV002164714 likely pathogenic not provided 2022-02-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This missense change has been observed in individual(s) with cortical malformations (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 219 of the TUBA1A protein (p.Ile219Met).
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223430 SCV003918949 likely pathogenic Lissencephaly due to TUBA1A mutation 2023-04-20 criteria provided, single submitter research

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