ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val)

dbSNP: rs1769138600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198199 SCV001369069 uncertain significance Bethlem myopathy 2 2019-08-14 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001367888 SCV001564259 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-04-19 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with COL12A1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 2482 of the COL12A1 protein (p.Ile2482Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.
Ambry Genetics RCV005318640 SCV005987181 uncertain significance Inborn genetic diseases 2025-03-03 criteria provided, single submitter clinical testing The c.7444A>G (p.I2482V) alteration is located in exon 47 (coding exon 46) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 7444, causing the isoleucine (I) at amino acid position 2482 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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