Submissions for variant NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=)

gnomAD frequency: 0.00241  dbSNP: rs148723625

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155188	SCV000204874	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ile1258Ile in Exon 05 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 0.4% (30/6852) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs148723625).
Eurofins Ntd Llc (ga)	RCV000155188	SCV000340151	likely benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263636	SCV000401128	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	RCV000840173	SCV000982093	benign	not provided	2019-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000840173	SCV001031755	benign	not provided	2025-01-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000840173	SCV001746512	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	MYO15A: BP4, BP7, BS2