Submissions for variant NM_005379.4(MYO1A):c.916G>A (p.Val306Met)

gnomAD frequency: 0.00570  dbSNP: rs55679042

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038478	SCV000062156	benign	not specified	2013-07-16	criteria provided, single submitter	clinical testing	Val306Met in exon 11 of MYO1A: This variant is not expected to have clinical sig nificance because it has been identified in 1% (83/8600) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/; dbSNP rs55679042) and due to a lack of conservation across species, including mammals. Of note, at least 6 different mammals (rat, mouse, tree shrew, pika, microbat, and wallaby) have a Methionine (Met) at this position despite high nearby amino acid conservation.
Eurofins Ntd Llc (ga)	RCV000038478	SCV000225353	likely benign	not specified	2014-11-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001703414	SCV000730557	benign	not provided	2018-06-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27759032, 25262649, 24616153, 25333069, 12736868)
CeGaT Center for Human Genetics Tuebingen	RCV001703414	SCV004133502	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	MYO1A: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001703414	SCV005215469	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000008625	SCV000028833	uncertain significance	Autosomal dominant nonsyndromic hearing loss 48	2014-05-01	no assertion criteria provided	literature only