ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1045A>G (p.Ile349Val)

gnomAD frequency: 0.00002  dbSNP: rs748804342
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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 RCV001366016 SCV001562304 likely benign Familial aplasia of the vermis 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550058 SCV003739686 uncertain significance Inborn genetic diseases 2024-11-22 criteria provided, single submitter clinical testing The c.1045A>G (p.I349V) alteration is located in exon 8 (coding exon 6) of the AHI1 gene. This alteration results from a A to G substitution at nucleotide position 1045, causing the isoleucine (I) at amino acid position 349 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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