ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn)

gnomAD frequency: 0.00004  dbSNP: rs761913437
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548374 SCV000657147 likely benign Bethlem myopathy 1A 2024-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003258877 SCV003946200 uncertain significance Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing The c.2407G>A (p.D803N) alteration is located in exon 26 (coding exon 25) of the COL6A2 gene. This alteration results from a G to A substitution at nucleotide position 2407, causing the aspartic acid (D) at amino acid position 803 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691912 SCV005195213 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004735628 SCV005349902 uncertain significance COL6A2-related disorder 2024-04-08 no assertion criteria provided clinical testing The COL6A2 c.2407G>A variant is predicted to result in the amino acid substitution p.Asp803Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD. 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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