ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=)

gnomAD frequency: 0.00042  dbSNP: rs149189607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283316 SCV000401217 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600296 SCV000712207 benign not specified 2016-06-20 criteria provided, single submitter clinical testing p.Gln3264Gln in exon 61 of MYO15A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1% (89/8580) of East Asian chromosomes, including 1 homozygote, by the Exome Aggregation Consor tium (ExAC, http://exac.broadinstitute.org; dbSNP rs149189607).
GeneDx RCV000832789 SCV000974545 likely benign not provided 2021-11-11 criteria provided, single submitter clinical testing
Invitae RCV000832789 SCV001022448 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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