ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) (rs368077581)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427341 SCV000534623 uncertain significance not provided 2016-12-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the AHI1 gene. The P134S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P134S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. Based on the currently available information, it is unclear whether the P134S variant is a pathogenic variant or a rare benign variant.
Invitae RCV000527501 SCV000634572 likely benign Joubert syndrome 2019-12-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151771 SCV001312938 uncertain significance Joubert syndrome 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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