Submissions for variant NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met)

gnomAD frequency: 0.00197  dbSNP: rs150403702

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155192	SCV000204878	likely benign	not specified	2017-12-21	criteria provided, single submitter	clinical testing	p.Ile1918Met in exon 24 of MYO15A: This variant is not expected to have clinica l significance because it has been identified in 0.3% (394/126610) of European c hromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstit ute.org; dbSNP rs150403702). ACMG/AMP criteria applied: BS1.
Illumina Laboratory Services, Illumina	RCV000392702	SCV000401159	uncertain significance	Autosomal recessive nonsyndromic hearing loss 3	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000973973	SCV001121769	likely benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000973973	SCV001144648	likely benign	not provided	2018-11-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001267002	SCV001445183	uncertain significance	Inborn genetic diseases	2019-04-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000973973	SCV001828039	likely benign	not provided	2020-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000973973	SCV004142400	uncertain significance	not provided	2023-09-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927506	SCV004744728	likely benign	MYO15A-related disorder	2022-07-12	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).