ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu)

gnomAD frequency: 0.00007  dbSNP: rs531282669
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Total submissions: 4
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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, Revvity RCV003145323 SCV003832930 uncertain significance not provided 2019-09-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences 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.

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