ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)

gnomAD frequency: 0.00006  dbSNP: rs72653788
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000499338 SCV001139966 likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001782997 SCV002023917 likely pathogenic not provided 2019-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001782997 SCV002231744 pathogenic not provided 2025-01-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 760 of the ABCC6 protein (p.Arg760Trp). This variant is present in population databases (rs72653788, gnomAD 0.006%). This missense change has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 15723264, 16086317). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 433268). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCC6 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ABCC6 function (PMID: 30154241). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002475992 SCV002804056 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-01-05 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV001782997 SCV005199094 pathogenic not provided 2022-08-04 criteria provided, single submitter clinical testing
PXE International RCV000499338 SCV000589000 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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