Submissions for variant NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)

gnomAD frequency: 0.00121  dbSNP: rs139889944

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036165	SCV000059817	likely benign	not specified	2012-12-07	criteria provided, single submitter	clinical testing	p.Arg1602Gln in exon 35 of MYO7A: This variant is not expect to have clinical si gnificance because it has been identified in 4.4% (377/8484) of East Asian chrom osomes including 7 homozygotes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs139889944). This variant was reported in 2 ind ividuals with Usher syndrome (Liu 1998, Weston 1998). It was reported in trans with p.Leu651Pro in MYO7A of uncertain significance in two affected siblings (Li u 1998) and to be homozygous in another individual (Weston 1998), which is consi stent with its allele frequency in the general population and insufficient to su pport pathogenicity.
Illumina Laboratory Services, Illumina	RCV000223626	SCV000374398	benign	Usher syndrome type 1	2018-03-06	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)	RCV000036165	SCV000702938	likely benign	not specified	2016-12-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000132572	SCV000976823	benign	not provided	2018-03-14	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000132572	SCV001100241	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001109034	SCV001266339	likely benign	Autosomal recessive nonsyndromic hearing loss 2	2018-03-06	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	RCV001111380	SCV001268931	benign	Autosomal dominant nonsyndromic hearing loss 11	2018-03-06	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.
Fulgent Genetics, Fulgent Genetics	RCV002496552	SCV002813522	likely benign	Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1	2021-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000132572	SCV004010105	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	MYO7A: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000132572	SCV005211547	likely benign	not provided		criteria provided, single submitter	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132572	SCV000172514	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
GeneReviews	RCV000223626	SCV000268745	not provided	Usher syndrome type 1		no assertion provided	literature only
Natera, Inc.	RCV001272799	SCV001455165	benign	Usher syndrome type 1B	2020-04-17	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000132572	SCV001800726	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036165	SCV001953718	benign	not specified		no assertion criteria provided	clinical testing