Submissions for variant NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)

gnomAD frequency: 0.00512  dbSNP: rs41298747

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036159	SCV000059811	benign	not specified	2010-09-03	criteria provided, single submitter	clinical testing	Thr1566Met in exon 35 of MYO7A: This variant has been reported in the literature (Cremers 2007, Najera 2002, Roux 2006) and in dbSNP (rs41298747). It is not exp ected to have clinical significance due to a common occurrence in controls and t he fact that the Met (methionine) variant at position 1566 is present in other m ammalian species including rat and mouse.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000036159	SCV000296901	benign	not specified	2015-10-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000677317	SCV000374389	likely benign	Usher syndrome type 1	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000325844	SCV000374390	likely benign	Autosomal dominant nonsyndromic hearing loss 11	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000384892	SCV000374391	likely benign	Autosomal recessive nonsyndromic hearing loss 2	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000950207	SCV000513836	benign	not provided	2019-04-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26969326, 25262649, 16679490, 22681893, 22952768, 12112664, 30245029)
Eurofins Ntd Llc (ga)	RCV000036159	SCV000700567	benign	not specified	2017-01-31	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000677317	SCV000803492	benign	Usher syndrome type 1	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign, for Usher syndrome 1B, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.). BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Invitae	RCV000950207	SCV001096495	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000950207	SCV004131127	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYO7A: BP4, BS2
Natera, Inc.	RCV001826549	SCV002088465	benign	Usher syndrome type 1B	2019-11-01	no assertion criteria provided	clinical testing