Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247019 | SCV000308203 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000766392 | SCV000573488 | uncertain significance | not provided | 2017-02-28 | criteria provided, single submitter | clinical testing | The A838T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A838T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals; however, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with COL6A1-related disorders (Stenson et al., 2014). In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
Labcorp Genetics |
RCV001854959 | SCV002268141 | likely benign | Bethlem myopathy 1A | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004021007 | SCV004929485 | uncertain significance | Inborn genetic diseases | 2024-02-26 | criteria provided, single submitter | clinical testing | The c.2512G>A (p.A838T) alteration is located in exon 35 (coding exon 35) of the COL6A1 gene. This alteration results from a G to A substitution at nucleotide position 2512, causing the alanine (A) at amino acid position 838 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |