ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn)

gnomAD frequency: 0.00001  dbSNP: rs969934621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541024 SCV000657201 uncertain significance Bethlem myopathy 1A 2017-01-31 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a COL6A2-related disease. This sequence change replaces aspartic acid with asparagine at codon 114 of the COL6A2 protein (p.Asp114Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine.
PreventionGenetics, part of Exact Sciences RCV004530578 SCV004106955 uncertain significance COL6A2-related disorder 2023-08-08 criteria provided, single submitter clinical testing The COL6A2 c.340G>A variant is predicted to result in the amino acid substitution p.Asp114Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47532117-G-A). 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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