ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3736-1G>A

gnomAD frequency: 0.00001  dbSNP: rs63750273
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000006952 SCV002072566 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2022-05-16 criteria provided, single submitter clinical testing _x000D_Index is not affected, no second variant was found in ABCC6 Criteria applied: PVS1, PM3_STR, PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV002512860 SCV003443492 pathogenic not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 26 of the ABCC6 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCC6 are known to be pathogenic (PMID: 11536079, 17617515). This variant is present in population databases (rs63750273, gnomAD 0.009%). Disruption of this splice site has been observed in individual(s) with clinical features of ABCC6-related conditions (PMID: 10811882, 22209248, 24008425, 28655553). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6574). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV002512860 SCV003813006 pathogenic not provided 2022-04-27 criteria provided, single submitter clinical testing
OMIM RCV000006952 SCV000027148 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2012-01-13 no assertion criteria provided literature only
OMIM RCV000023274 SCV000044565 pathogenic Arterial calcification, generalized, of infancy, 2 2012-01-13 no assertion criteria provided literature only
PXE International RCV000006952 SCV000589165 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-12 no assertion criteria provided research

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