ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)

gnomAD frequency: 0.00048  dbSNP: rs370388701
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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 RCV000685010 SCV000812478 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001574909 SCV001801797 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002532197 SCV003751999 uncertain significance Inborn genetic diseases 2022-09-27 criteria provided, single submitter clinical testing The c.2588G>A (p.G863E) alteration is located in exon 13 (coding exon 12) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 2588, causing the glycine (G) at amino acid position 863 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001574909 SCV003831182 uncertain significance not provided 2020-05-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420211 SCV004118064 uncertain significance COL12A1-related disorder 2023-05-25 criteria provided, single submitter clinical testing The COL12A1 c.2588G>A variant is predicted to result in the amino acid substitution p.Gly863Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.19% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-75884876-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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