ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.3143_3145del (p.Phe1048del) (rs769437554)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479297 SCV000568670 likely pathogenic not provided 2016-09-06 criteria provided, single submitter clinical testing The c.3143_3145delTCT likely pathogenic variant has been reported previously in patients with PXE (Miksch et al., 2005, Chassaing et al., 2005). It was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The c.3143_3145delTCT in-frame deletion results in the loss of a single Phenylalanine residue, denoted p.Phe1048del. This deletion on occurs at a position that is conserved across species and is found in the transmembrane type1-2 domain of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
PXE International RCV000499108 SCV000589138 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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