ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met)

dbSNP: rs72653796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857042 SCV002136166 pathogenic not provided 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 811 of the ABCC6 protein (p.Thr811Met). This variant is present in population databases (rs72653796, gnomAD 0.01%). This missense change has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 16410789, 32873932). 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: 433275). 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000499238 SCV005442047 likely benign Autosomal recessive inherited pseudoxanthoma elasticum 2024-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010420 SCV005638894 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-04-12 criteria provided, single submitter clinical testing
PXE International RCV000499238 SCV000589008 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 no assertion criteria provided research

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