Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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, |
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. |