ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.346-6G>A (rs55778939)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499235 SCV000589022 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research
Reproductive Health Research and Development,BGI Genomics RCV000499235 SCV001142461 likely benign Pseudoxanthoma elasticum 2020-01-06 no assertion criteria provided curation NG_007558.2(NM_001171.5):c.346-6G>A in the ABCC6 gene has an allele frequency of 0.05 in European (non-Finnish) subpopulation in the gnomAD database. One family with generalized arterial calcification of infancy had compound heterozygous mutations c.346-6G>A and p.R1141 in intron 3 and exon 24 of ABCC6 (PMID24008425). Benign computational verdict because benign prediction from DANN. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BP4, PM3, PP4.

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