Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000414280 | SCV000491837 | uncertain significance | not specified | 2016-11-18 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the 5' untranslated region of the MYLK gene. The c.-4 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Data from control individuals is not available to assess whether c.-4 G>A may be a common benign variant in the general population. This single nucleotide substitution is located in the last position of exon 3, a non-coding exon, and occurs within the Kozak consensus sequence. In silico splice algorithms predict this variant may weaken the intron 3 splice donor site. Due to its location within the Kozak sequence, it also may affect initiation of protein translation. Nevertheless, this variant occurs at a position that is not conserved through species, and adenosine (A) is wild type at this nucleotide position in at least one mammalian species. Moreover, no regulatory or splice variants in the MYLK gene have been reported in HGMD in association with aortopathy (Stenson et al., 2014), and haploinsufficiency is not a well-established disease mechanism for the MYLK gene. |
| Fulgent Genetics, |
RCV002481277 | SCV002793041 | uncertain significance | Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 2021-08-19 | criteria provided, single submitter | clinical testing |