ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln)

gnomAD frequency: 0.00036  dbSNP: rs200456053
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Total submissions: 6
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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 RCV000219329 SCV000270496 likely benign not specified 2015-02-24 criteria provided, single submitter clinical testing p.Arg3468Gln in exon 65 of MYO15A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, 6 mammals (including mouse, rat, and hedgehog) have a glutamine (Gln) at this position despite high nearby amino acid conservation. In addition, computa tional prediction tools do not suggest a high likelihood of impact to the protei n. It has also been identified in 0.3% (21/8552) of East Asian chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs20 0456053).
Illumina Laboratory Services, Illumina RCV000392767 SCV000401222 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 RCV001554937 SCV001776274 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001554937 SCV004560906 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649099 SCV005140273 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.10403G>A (p.R3468Q) alteration is located in exon 65 (coding exon 64) of the MYO15A gene. This alteration results from a G to A substitution at nucleotide position 10403, causing the arginine (R) at amino acid position 3468 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003947708 SCV004764098 likely benign MYO15A-related disorder 2020-09-23 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).

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