Submissions for variant NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)

gnomAD frequency: 0.00066  dbSNP: rs151036570

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151338	SCV000199312	likely benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing	p.Ala958Thr in exon 23 of MYH9: This variant is not expected to have clinical s ignificance because it has been identified in 0.2% (102/66426) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs151036570). In addition, this variant has been previously identified by our laboratory in two individuals with hearing loss that could be explained b y pathogenic variants in other genes, as well as in an unaffected parent.
Illumina Laboratory Services, Illumina	RCV000387348	SCV000438408	likely benign	Autosomal dominant nonsyndromic hearing loss 17	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 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.
Illumina Laboratory Services, Illumina	RCV000293055	SCV000438409	benign	MYH9-related disorder	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 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.
Eurofins Ntd Llc (ga)	RCV000726812	SCV000703222	uncertain significance	not provided	2017-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000726812	SCV000714908	likely benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29090586, 30349881, 29958610)
Invitae	RCV000726812	SCV001031548	likely benign	not provided	2023-12-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726812	SCV004698523	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYH9: BS1
PreventionGenetics, part of Exact Sciences	RCV000293055	SCV004787275	likely benign	MYH9-related disorder	2022-12-15	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).
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV002243824	SCV002515747	uncertain significance	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		no assertion criteria provided	research