ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.2855_2860TCCTCT[1] (p.952_953FL[1]) (rs767359198)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255723 SCV000321362 likely pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing The c.2861_2866delTCCTCT variant has been published previously in three patients who were also heterozygous for the R518Q variant in the ABCC6 gene (Hosen et al., 2015). It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This deletion causes the loss of two conserved residues, Phenylalanine 954 and Leucine 955, in a conserved transmembrane domain. In summary, the c.2861_2866delTCCTCT variant is a strong candidate for a disease-causing variant.
PXE International RCV000499327 SCV000589277 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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