ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.2787+1G>T (rs72664209)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763363 SCV000894059 pathogenic Pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Generalized arterial calcification of infancy 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000254806 SCV000321363 pathogenic not provided 2017-05-05 criteria provided, single submitter clinical testing The c.2787+1G>T pathogenic variant in the ABCC6 gene has been reported previously in association with pseudoxanthoma elasticum in two affected individuals who were compound heterozygous for the c.2787+1G>T pathogenic variant along with a missense pathogenic variant (La Saux et al.,2000). This splice site pathogenic variant destroys the canonical splice donor site in intron 21. Functional studies have shown that this pathogenic variant leads to a new splice site and aberrant splicing, which causes a frameshift and results in an abnormal and truncated protein (Nitschke et al., 2012). The c.2787+1G>T pathogenic variant was not 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. We interpret c.2787+1G>T as a disease-causing pathogenic variant.
OMIM RCV000006938 SCV000027134 pathogenic Pseudoxanthoma elasticum 2012-01-13 no assertion criteria provided literature only
OMIM RCV000087145 SCV000120007 pathogenic Generalized arterial calcification of infancy 2 2012-01-13 no assertion criteria provided literature only
PXE International RCV000006938 SCV000589163 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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