ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)

gnomAD frequency: 0.00001  dbSNP: rs201343487
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815338 SCV000955787 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001759584 SCV002007764 uncertain significance not provided 2022-09-09 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
Fulgent Genetics, Fulgent Genetics RCV000815338 SCV002788137 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534866 SCV003716936 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.118A>G (p.T40A) alteration is located in exon 3 (coding exon 2) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 118, causing the threonine (T) at amino acid position 40 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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