ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)

gnomAD frequency: 0.00013  dbSNP: rs367863299
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507566 SCV000604407 uncertain significance not specified 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV001449238 SCV001652350 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001449238 SCV002601186 uncertain significance not provided 2022-11-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Division of Human Genetics, Children's Hospital of Philadelphia RCV000185567 SCV000238458 not provided Autosomal recessive nonsyndromic hearing loss 3 2015-02-03 no assertion provided research This variant (NM_016239.3:c.10054G>A;p.A3352T) is considered a variant of uncertain significance as it has not been reported in literature and is present in 0.01% of alleles in ExAC 0.3 (15/119,824) with no homozygotes. This variant occurs in the FERM protein domain at a highly conserved amino acid and nucleotide position.

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