ClinVar Miner

Submissions for variant NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala)

gnomAD frequency: 0.00037  dbSNP: rs138955440
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Total submissions: 4
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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 RCV000155215 SCV000204901 likely benign not specified 2013-06-05 criteria provided, single submitter clinical testing Thr1118Ala in exon 29 of MYO3A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Furt hermore, this variant has been identified in 0.06% (5/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs138955440).
Illumina Laboratory Services, Illumina RCV000403515 SCV000361954 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.
GeneDx RCV000843421 SCV000985456 likely benign not provided 2022-10-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV000843421 SCV002338580 benign not provided 2024-02-26 criteria provided, single submitter clinical testing

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