ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val)

gnomAD frequency: 0.00541  dbSNP: rs147376000
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039043 SCV000062721 benign not specified 2014-01-21 criteria provided, single submitter clinical testing Ile1489Val in Exon 32 of MYO3A: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (50/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs147376000).
Preventiongenetics, part of Exact Sciences RCV000039043 SCV000312822 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349737 SCV000361973 uncertain significance Autosomal recessive nonsyndromic hearing loss 30 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514493 SCV000609578 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000514493 SCV000718157 benign not provided 2019-03-25 criteria provided, single submitter clinical testing
Invitae RCV000514493 SCV001035078 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000349737 SCV002049600 benign Autosomal recessive nonsyndromic hearing loss 30 2023-10-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514493 SCV003916592 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing MYO3A: BP4, BS2

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