Submissions for variant NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu)

gnomAD frequency: 0.00111  dbSNP: rs139944375

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000313832	SCV000337042	uncertain significance	not provided	2015-11-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095106	SCV000460497	uncertain significance	Joubert syndrome 3	2018-01-12	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.
Invitae	RCV000357466	SCV000758392	likely benign	Familial aplasia of the vermis	2024-01-31	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001095106	SCV001522845	uncertain significance	Joubert syndrome 3	2019-09-22	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000313832	SCV001752058	likely benign	not provided	2019-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930096	SCV004744258	likely benign	AHI1-related condition	2022-04-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).