ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) (rs201148693)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195696 SCV000255024 uncertain significance Joubert syndrome 2016-09-29 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 1140 of the AHI1 protein (p.Pro1140Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs201148693, ExAC 0.1%). This variant has been reported in the parent of a child affected with Joubert syndrome, but was not observed in the affected child (PMID: 16453322). ClinVar contains an entry for this variant (Variation ID: 216697). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000248598 SCV000312891 likely benign not specified criteria provided, single submitter clinical testing

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