Submissions for variant NM_016239.4(MYO15A):c.54G>A (p.Lys18=)

gnomAD frequency: 0.00142  dbSNP: rs144909486

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245052	SCV000312647	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726060	SCV000341605	uncertain significance	not provided	2016-04-25	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000245052	SCV000711122	likely benign	not specified	2016-08-16	criteria provided, single submitter	clinical testing	p.Lys18Lys in exon 02 of MYO15A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.2% (134/56718) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs144909486).
GeneDx	RCV000726060	SCV000986436	likely benign	not provided	2021-10-02	criteria provided, single submitter	clinical testing	Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 24498627)
Invitae	RCV000726060	SCV001023066	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000726060	SCV001144647	likely benign	not provided	2019-06-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001122475	SCV001281191	uncertain significance	Autosomal recessive nonsyndromic hearing loss 3	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000726060	SCV003917898	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	MYO15A: BP4, BS1