Submissions for variant NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu)

gnomAD frequency: 0.00191  dbSNP: rs201234482

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724786	SCV000232751	uncertain significance	not provided	2015-05-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000316514	SCV000401129	uncertain significance	Autosomal recessive nonsyndromic hearing loss 3	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000180338	SCV000711128	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ile1345Leu in Exon 08 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (27/6778) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS).
CeGaT Center for Human Genetics Tuebingen	RCV000724786	SCV000892519	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	MYO15A: PP3, BS2
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724786	SCV001035230	likely benign	not provided	2024-12-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000724786	SCV001945898	benign	not provided	2019-01-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927701	SCV004739168	likely benign	MYO15A-related disorder	2022-02-21	no assertion criteria provided	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).