ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu)

gnomAD frequency: 0.00001  dbSNP: rs757825778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362217 SCV001558224 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001751712 SCV002005201 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV004036831 SCV004928490 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.5510G>A (p.G1837E) alteration is located in exon 32 (coding exon 31) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 5510, causing the glycine (G) at amino acid position 1837 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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