ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.906G>A (p.Thr302=)

gnomAD frequency: 0.00014  dbSNP: rs139818474
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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 RCV000406607 SCV000361911 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000603671 SCV000711145 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Thr302Thr in Exon 10 of MYO3A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 16/126598 European chromosomes and 4/34408 Latino chromosomes by the Genome Aggregation Database ( gnomAD, http://gnomAD.broadinstitute.org; dbSNP rs139818474). ACMG/AMP criteria applied: BP7.
GeneDx RCV001541289 SCV001759266 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Invitae RCV001541289 SCV003295890 likely benign not provided 2022-04-03 criteria provided, single submitter clinical testing

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