ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)

gnomAD frequency: 0.00007  dbSNP: rs200167099
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812517 SCV000952833 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537374 SCV003544864 uncertain significance Inborn genetic diseases 2023-12-31 criteria provided, single submitter clinical testing The c.2323A>G (p.R775G) alteration is located in exon 12 (coding exon 11) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 2323, causing the arginine (R) at amino acid position 775 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003225130 SCV003921555 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004789215 SCV005400212 uncertain significance Bethlem myopathy 2 2020-05-21 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_004370.5(COL12A1):c.2323A>G in exon 12 of 66 of the COL12A1 gene (NB: This variant is non-coding in an alternative transcript). This substitution is predicted to create a major amino acid change from arginine to glycine at position 775 of the protein, NP_004361.3(COL12A1):p.(Arg775Gly). The arginine at this position has high conservation (100 vertebrates, UCSC), and is located within the Fibronectin type III functional domain. In silico software predicts this variant to be benign (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD population database at a frequency of 0.013% (35 heterozygotes, 0 homozygotes). An alternative residue change at the same location has been reported in the gnomAD database at a frequency of 0.0032%. This variant has not been previously observed in clinical cases. It has been previously reported as a VUS (ClinVar). Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS) with LOW CLINICAL RELEVANCE. Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign
Fulgent Genetics, Fulgent Genetics RCV000812517 SCV005672896 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-05-09 criteria provided, single submitter clinical testing

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