ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile)

gnomAD frequency: 0.00001  dbSNP: rs1385786827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753363 SCV002004955 uncertain significance not provided 2019-07-30 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); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001868752 SCV002280790 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2063 of the COL12A1 protein (p.Val2063Ile). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1318816). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002544190 SCV003662986 uncertain significance Inborn genetic diseases 2022-11-07 criteria provided, single submitter clinical testing The c.6187G>A (p.V2063I) alteration is located in exon 37 (coding exon 36) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 6187, causing the valine (V) at amino acid position 2063 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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