ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.1868-5T>G (rs72664207)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488965 SCV000577745 likely pathogenic not provided 2015-06-04 criteria provided, single submitter clinical testing The c.1868-5 T>G variant has not been published in association with pseudoxanthoma elasticum (Chassaing et al., 2005) but it also has not been observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.1868-5 T>G damages the natural acceptor site. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Based on the currently available information, c.1868-5 T>G is a candidate for a disease-causing variant, although the possibility that c.1868-5 T>G is a benign variant cannot be completely excluded.
PXE International RCV000499193 SCV000589145 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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