Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155166 | SCV000204852 | uncertain significance | not specified | 2013-09-04 | criteria provided, single submitter | clinical testing | The Asp1159Tyr variant in MYH14 has not been reported in individuals with hearin g loss, but has been identified in 0.04% (3/8230) of European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS, dbSN P rs370256265). Although this variant was identified in the general population, its frequency is not high enough to rule out a pathogenic role. Computational an alyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, a nd 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 signifi cance of the Asp1159Tyr variant. |
Gene |
RCV001548021 | SCV001767866 | uncertain significance | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002516121 | SCV003736937 | uncertain significance | Inborn genetic diseases | 2021-11-30 | criteria provided, single submitter | clinical testing | The c.3352G>T (p.D1118Y) alteration is located in exon 26 (coding exon 25) of the MYH14 gene. This alteration results from a G to T substitution at nucleotide position 3352, causing the aspartic acid (D) at amino acid position 1118 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |