ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys)

dbSNP: rs971565169
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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 RCV001207641 SCV001379003 uncertain significance Familial aplasia of the vermis 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 55 of the AHI1 protein (p.Tyr55Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002480679 SCV002790715 uncertain significance Joubert syndrome 3 2022-02-04 criteria provided, single submitter clinical testing

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