ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys)

gnomAD frequency: 0.00001  dbSNP: rs372985511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444377 SCV000536557 uncertain significance not provided 2017-02-07 criteria provided, single submitter clinical testing The E2493K variant in the COL12A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E2493K variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E2493K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret E2493K as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000652906 SCV000774778 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-10-13 criteria provided, single submitter clinical testing

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