ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)

gnomAD frequency: 0.00014  dbSNP: rs770605375
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499488 SCV000593077 uncertain significance not specified 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000767140 SCV000621508 uncertain significance not provided 2020-07-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001238586 SCV001411407 likely benign Familial aplasia of the vermis 2024-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524145 SCV003752059 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.1415G>A (p.R472Q) alteration is located in exon 10 (coding exon 8) of the AHI1 gene. This alteration results from a G to A substitution at nucleotide position 1415, causing the arginine (R) at amino acid position 472 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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