ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp)

gnomAD frequency: 0.00001  dbSNP: rs779287707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222866 SCV001394988 uncertain significance Bethlem myopathy 1 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 232 of the COL6A2 protein (p.Asn232Asp). This variant is present in population databases (rs779287707, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COL6A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 951037). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt COL6A2 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002563031 SCV003704348 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.694A>G (p.N232D) alteration is located in exon 3 (coding exon 2) of the COL6A2 gene. This alteration results from a A to G substitution at nucleotide position 694, causing the asparagine (N) at amino acid position 232 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003145419 SCV003834143 uncertain significance not provided 2023-08-28 criteria provided, single submitter clinical testing

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