Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001063898 | SCV001228767 | benign | Bethlem myopathy 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002554459 | SCV003680714 | uncertain significance | Inborn genetic diseases | 2022-12-16 | criteria provided, single submitter | clinical testing | The c.5544C>A (p.D1848E) alteration is located in exon 12 (coding exon 11) of the COL6A3 gene. This alteration results from a C to A substitution at nucleotide position 5544, causing the aspartic acid (D) at amino acid position 1848 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003145323 | SCV003832930 | uncertain significance | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003413879 | SCV004118353 | uncertain significance | COL6A3-related condition | 2023-01-10 | criteria provided, single submitter | clinical testing | The COL6A3 c.5544C>A variant is predicted to result in the amino acid substitution p.Asp1848Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0081% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-238274635-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |