Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220609 | SCV000272067 | uncertain significance | not specified | 2016-01-21 | criteria provided, single submitter | clinical testing | The p.Lys1301Asn variant in MYH9 has not been previously reported in individuals with hearing loss or MYH9-related disorder. This variant has been identified in 1/65600 European chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs767235227); however this frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conserv ation analyses do not provide strong support for or against an impact to the pro tein. In summary, the clinical significance of the p.Lys1301Asn variant is uncer tain. |
Ambry Genetics | RCV002517570 | SCV003696995 | uncertain significance | Inborn genetic diseases | 2022-10-05 | criteria provided, single submitter | clinical testing | The c.3903G>C (p.K1301N) alteration is located in exon 29 (coding exon 28) of the MYH9 gene. This alteration results from a G to C substitution at nucleotide position 3903, causing the lysine (K) at amino acid position 1301 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV003727637 | SCV004533136 | likely benign | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing |