ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1674del (p.Glu559fs)

dbSNP: rs1313008538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499256 SCV000589194 likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-02 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002490821 SCV002792817 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524119 SCV003443497 pathogenic not provided 2024-04-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu559Argfs*4) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 18157818). ClinVar contains an entry for this variant (Variation ID: 433430). For these reasons, this variant has been classified as Pathogenic.

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