Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825402 | SCV000966699 | uncertain significance | not specified | 2018-10-24 | criteria provided, single submitter | clinical testing | The p.Lys1128Asn variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome but has been identified in 0.05% (10/18068 ) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org). Computational prediction tools and conservation analysi s do not provide strong support for or against an impact to the protein. In summ ary, the clinical significance of the p.Lys1128Asn variant is uncertain. ACMG/AM P Criteria applied: PM2_Supporting. |
Invitae | RCV001858389 | SCV002183932 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536051 | SCV003690871 | uncertain significance | Inborn genetic diseases | 2021-09-17 | criteria provided, single submitter | clinical testing | The c.3384G>C (p.K1128N) alteration is located in exon 27 (coding exon 26) of the MYO7A gene. This alteration results from a G to C substitution at nucleotide position 3384, causing the lysine (K) at amino acid position 1128 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001272511 | SCV001454583 | uncertain significance | Usher syndrome type 1B | 2020-09-16 | no assertion criteria provided | clinical testing |