Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151413 | SCV000199426 | uncertain significance | not specified | 2014-02-07 | criteria provided, single submitter | clinical testing | The Glu2724Lys variant in MYO15A has not been previously reported in individuals with hearing loss or in large population studies. Computational analyses (bioc hemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, additional information is needed to fully assess the clinical significance of th is variant. |
Fulgent Genetics, |
RCV002478431 | SCV002791858 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 3 | 2021-09-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003764919 | SCV004630765 | likely benign | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004639147 | SCV005140285 | uncertain significance | Inborn genetic diseases | 2024-03-30 | criteria provided, single submitter | clinical testing | The c.8170G>A (p.E2724K) alteration is located in exon 45 (coding exon 44) of the MYO15A gene. This alteration results from a G to A substitution at nucleotide position 8170, causing the glutamic acid (E) at amino acid position 2724 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |