Submissions for variant NM_005982.4(SIX1):c.162G>A (p.Ala54=)

gnomAD frequency: 0.00031  dbSNP: rs150550985

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221837	SCV000269827	benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing	p.Ala54Ala in exon 1 of SIX1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (15/11556) of L atino chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitut e.org; dbSNP rs150550985).
Illumina Laboratory Services, Illumina	RCV000328781	SCV000387288	benign	Branchiootic 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000383302	SCV000387289	likely benign	Autosomal dominant nonsyndromic hearing loss 23	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000871377	SCV001013025	benign	Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001610531	SCV001833241	benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500694	SCV002812393	likely benign	Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23; Branchiootorenal syndrome 1	2021-09-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001610531	SCV004701255	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SIX1: BP4, BP7