ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1988A>G (p.His663Arg)

gnomAD frequency: 0.00002  dbSNP: rs764241362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652908 SCV000774780 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-06-29 criteria provided, single submitter clinical testing
GeneDx RCV002466556 SCV002762278 uncertain significance not provided 2022-11-30 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
Revvity Omics, Revvity RCV002466556 SCV003831207 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972830 SCV005555060 uncertain significance Inborn genetic diseases 2024-10-21 criteria provided, single submitter clinical testing The c.1988A>G (p.H663R) alteration is located in exon 11 (coding exon 10) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 1988, causing the histidine (H) at amino acid position 663 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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