ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.627A>C (p.Lys209Asn)

gnomAD frequency: 0.00014  dbSNP: rs149882663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483672 SCV000574064 uncertain significance not provided 2017-03-15 criteria provided, single submitter clinical testing To our knowledge, the K209N variant in the ABCA12 gene has not been reported previously as a pathogenic variant, nor as a benign variant. The K209N variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). It is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Additionally, no other nearby missense variants have been reported in the Human Gene Mutation Database (Stenson et al., 2014). Therefore, we interpret K209N as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000483672 SCV004507868 benign not provided 2023-09-26 criteria provided, single submitter clinical testing

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