ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe)

gnomAD frequency: 0.00001  dbSNP: rs1014317450
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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 RCV001363761 SCV001559886 likely pathogenic not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 171 of the CANT1 protein (p.Ile171Phe). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with multiple epiphyseal dysplasia (PMID: 28742282). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 441248). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt CANT1 protein function with a positive predictive value of 95%. 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.
OMIM RCV000509575 SCV000607727 pathogenic Epiphyseal dysplasia, multiple, 7 2017-10-12 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291039 SCV001479366 likely pathogenic Multiple epiphyseal dysplasia no assertion criteria provided research

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