ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.909_917del (p.Thr304_Lys306del)

dbSNP: rs1417477245
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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 RCV001222704 SCV001394818 uncertain significance Familial aplasia of the vermis 2022-03-13 criteria provided, single submitter clinical testing This variant, c.909_917del, results in the deletion of 3 amino acid(s) of the AHI1 protein (p.Thr304_Lys306del), but otherwise preserves the integrity of the reading frame. 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: 950893). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV005040040 SCV005666340 uncertain significance Joubert syndrome 3 2024-04-04 criteria provided, single submitter clinical testing

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