ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.630_633del (p.Lys210fs)

dbSNP: rs776569081
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786755 SCV002028681 likely pathogenic not provided 2023-02-28 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign in association with AHI1-related ciliopathy to our knowledge; This variant is associated with the following publications: (PMID: 31964843)
Labcorp Genetics (formerly Invitae), Labcorp RCV001868883 SCV002234136 pathogenic Familial aplasia of the vermis 2023-07-10 criteria provided, single submitter clinical testing 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: 1326575). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs776569081, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Lys210Asnfs*2) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322, 28442542, 29186038).

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