Submissions for variant NM_001134831.2(AHI1):c.1643G>A (p.Arg548His)

gnomAD frequency: 0.01070  dbSNP: rs35433555

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080011	SCV000260347	benign	Familial aplasia of the vermis	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116285	SCV000312861	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116285	SCV000511997	benign	not specified	2016-04-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc	RCV000206565	SCV001144287	benign	not provided	2019-08-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154713	SCV001316093	benign	Joubert syndrome 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000206565	SCV004185390	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	AHI1: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000116285	SCV000150203	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000206565	SCV001800538	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000206565	SCV001969925	likely benign	not provided		no assertion criteria provided	clinical testing