ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter)

gnomAD frequency: 0.00002  dbSNP: rs72653705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591134 SCV001824117 pathogenic not provided 2020-07-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 11536079, 25525159, 31589614, 18513494, 15459974)
Labcorp Genetics (formerly Invitae), Labcorp RCV001591134 SCV002150062 pathogenic not provided 2024-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1030*) in the ABCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC6 are known to be pathogenic (PMID: 11536079, 17617515). This variant is present in population databases (rs72653705, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with clinical features of pseudoxanthoma elasticum (PMID: 11536079, 15459974). ClinVar contains an entry for this variant (Variation ID: 433300). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001591134 SCV003812185 likely pathogenic not provided 2021-11-27 criteria provided, single submitter clinical testing
PXE International RCV000499322 SCV000589037 likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-12 no assertion criteria provided research

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