ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu)

gnomAD frequency: 0.00002  dbSNP: rs886380438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692597 SCV000820427 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-22 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). 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. 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 COL12A1 protein function. ClinVar contains an entry for this variant (Variation ID: 571448). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1213 of the COL12A1 protein (p.Ala1213Glu).
GeneDx RCV001571616 SCV001796123 uncertain significance not provided 2020-08-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Reported in ClinVar but additional evidence is not available (ClinVar Variant ID #571448; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002531448 SCV003687144 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.3638C>A (p.A1213E) alteration is located in exon 18 (coding exon 17) of the COL12A1 gene. This alteration results from a C to A substitution at nucleotide position 3638, causing the alanine (A) at amino acid position 1213 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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