ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln)

gnomAD frequency: 0.00002  dbSNP: rs775785006
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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 RCV001227322 SCV001399675 uncertain significance Familial aplasia of the vermis 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 830 of the AHI1 protein (p.Arg830Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 954799). 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"). 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 RCV002480747 SCV002796380 uncertain significance Joubert syndrome 3 2022-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563112 SCV003534702 uncertain significance Inborn genetic diseases 2021-10-12 criteria provided, single submitter clinical testing The c.2489G>A (p.R830Q) alteration is located in exon 17 (coding exon 15) of the AHI1 gene. This alteration results from a G to A substitution at nucleotide position 2489, causing the arginine (R) at amino acid position 830 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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