ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.4182del (p.Lys1394fs)

gnomAD frequency: 0.00004  dbSNP: rs67791546
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599457 SCV000709963 pathogenic not provided 2020-01-18 criteria provided, single submitter clinical testing Frameshift 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: 16392638, 29800625, 29709427, 12673275, 25764262, 16604369, 16127278, 24969777, 23485117, 18157818, 15727254, 20189652, 16835894, 32818659)
Labcorp Genetics (formerly Invitae), Labcorp RCV000599457 SCV002205142 pathogenic not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1394Asnfs*9) 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 (rs67791546, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with pseudoxanthoma elasticum (PMID: 12673275). ClinVar contains an entry for this variant (Variation ID: 433351). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002489228 SCV002782331 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-09-05 criteria provided, single submitter clinical testing
PXE International RCV000499133 SCV000589110 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research
GenomeConnect, ClinGen RCV000499133 SCV002074858 not provided Autosomal recessive inherited pseudoxanthoma elasticum no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 11-18-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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