ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)

dbSNP: rs577784031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002034780 SCV002107191 uncertain significance not provided 2022-03-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV002034779 SCV002212751 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163997 SCV003878183 uncertain significance Inborn genetic diseases 2023-02-23 criteria provided, single submitter clinical testing The c.3161G>A (p.R1054Q) alteration is located in exon 15 (coding exon 14) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 3161, causing the arginine (R) at amino acid position 1054 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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