ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.551C>T (p.Thr184Met)

gnomAD frequency: 0.00006  dbSNP: rs770371904
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Total submissions: 2
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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 RCV000626284 SCV000746942 uncertain significance Desbuquois dysplasia 1 2019-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860476 SCV002122525 uncertain significance not provided 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 184 of the CANT1 protein (p.Thr184Met). This variant is present in population databases (rs770371904, gnomAD 0.004%). 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: 523074). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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