ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr)

dbSNP: rs780798446
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605585 SCV000713500 uncertain significance not specified 2017-08-17 criteria provided, single submitter clinical testing The p.Cys3229Tyr variant in MYO15A has not been previously reported in individua ls with hearing loss, but has been identified in 8/30782 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs780798446). Computational prediction tools and conservation analysis sug gest that the variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. In summary, the clinical significanc e of the p.Cys3229Tyr variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV002483681 SCV002780551 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024898 SCV004948433 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.9686G>A (p.C3229Y) alteration is located in exon 59 (coding exon 58) of the MYO15A gene. This alteration results from a G to A substitution at nucleotide position 9686, causing the cysteine (C) at amino acid position 3229 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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