ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)

gnomAD frequency: 0.00026  dbSNP: rs199783506
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001123271 SCV000604405 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2023-09-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000506047 SCV000967255 likely benign not specified 2018-02-27 criteria provided, single submitter clinical testing p.Arg3465Gln in exon 65 of MYO15A: This variant is not expected to have clinical significance because the amino acid residue at position 3465 is not conserved t hrough species with 3 mammals (marmoset, squirrel monkey, star-nosed mole) havin g a glutamine (Gln) at this position. This variant has also been identified in 44/125630 European chromosomes, including 1 homozygous individual, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs1997835 06). ACMG/AMP Criteria applied: BP4_Strong.
Illumina Laboratory Services, Illumina RCV001123271 SCV001282094 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2017-08-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002056908 SCV002342364 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002056908 SCV004142410 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing MYO15A: PM2, BP4

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