ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His)

gnomAD frequency: 0.00002  dbSNP: rs544020493
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803652 SCV002049484 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2021-04-13 criteria provided, single submitter clinical testing The MYO15A c.5261G>A, p.Arg1754His variant (rs544020493), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.003% (9/280,456 alleles) in the Genome Aggregation Database. The arginine at codon 1754 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.378). Based on the available information, the clinical significance of this variant is uncertain.

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