ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val)

dbSNP: rs2149366807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823510 SCV002073002 uncertain significance Bethlem myopathy 2 criteria provided, single submitter clinical testing The missense variant p.E2375V in COL12A1 (NM_004370.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.E2375V variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.E2375V missense variant is predicted to be damaging by both SIFT and PolyPhen2. The glutamic acid residue at codon 2375 of COL12A1 is conserved in all mammalian species. The nucleotide c.7124 in COL12A1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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