ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val)

gnomAD frequency: 0.00006  dbSNP: rs372631124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662006 SCV000784338 likely pathogenic Desbuquois dysplasia 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662007 SCV000784339 likely pathogenic Epiphyseal dysplasia, multiple, 7 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855396 SCV002227122 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 371 of the CANT1 protein (p.Ala371Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs372631124, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with CANT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 548509). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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