ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.4430G>A (p.Arg1477His)

gnomAD frequency: 0.00001  dbSNP: rs374320243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnosis Center for Deafness RCV002224994 SCV001984903 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539841 SCV003548992 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.4430G>A (p.R1477H) alteration is located in exon 12 (coding exon 11) of the MYO15A gene. This alteration results from a G to A substitution at nucleotide position 4430, causing the arginine (R) at amino acid position 1477 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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