ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg)

dbSNP: rs1597748342
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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 RCV001001120 SCV001158260 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2019-03-18 criteria provided, single submitter clinical testing The MYO15A c.458A>G; p.Gln153Arg variant, to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The glutamine at codon 153 is moderately conserved (Alamut v.2.11) although computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, based on the available information, the clinical significance of this variant is uncertain.

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