Submissions for variant NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=)

gnomAD frequency: 0.00146  dbSNP: rs186426892

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155189	SCV000204875	likely benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing	p.Ala1573Ala in exon 15 of MYO15A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.2% (134/64560) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs186426892).
Illumina Laboratory Services, Illumina	RCV000297869	SCV000401143	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.
GeneDx	RCV000907717	SCV000723272	benign	not provided	2019-07-11	criteria provided, single submitter	clinical testing
Invitae	RCV000907717	SCV001052442	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000907717	SCV001246435	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	MYO15A: BP4, BP7
Athena Diagnostics Inc	RCV000155189	SCV001475316	benign	not specified	2020-08-24	criteria provided, single submitter	clinical testing