ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp)

gnomAD frequency: 0.00177  dbSNP: rs147458358
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Total submissions: 10
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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 RCV000151425 SCV000199446 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn3252Asp in Exon 60 of MYO15A: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (26/6804) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs147458358).
Eurofins Ntd Llc (ga) RCV000151425 SCV000344555 benign not specified 2016-09-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327740 SCV000401215 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.
GeneDx RCV000973745 SCV000723273 benign not provided 2019-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000973745 SCV001121516 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973745 SCV001246437 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing MYO15A: BP4, BS2
Institute of Human Genetics, University of Leipzig Medical Center RCV000327740 SCV001440124 likely benign Autosomal recessive nonsyndromic hearing loss 3 2019-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000151425 SCV001475318 likely benign not specified 2020-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516043 SCV003542385 likely benign Inborn genetic diseases 2021-12-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003927461 SCV004741714 benign MYO15A-related disorder 2019-05-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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