ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp)

gnomAD frequency: 0.00007  dbSNP: rs72653784
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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 RCV000499298 SCV000588991 likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 criteria provided, single submitter research
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197941 SCV001368726 likely pathogenic Arterial calcification, generalized, of infancy, 2 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP5,PP3,PM1,PP2. This variant was detected in homozygous state.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857039 SCV002300895 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change does not substantially affect ABCC6 function (PMID: 32873932). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ABCC6 protein function. ClinVar contains an entry for this variant (Variation ID: 433259). This missense change has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 17617515). This variant is present in population databases (rs72653784, gnomAD 0.005%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 699 of the ABCC6 protein (p.Glu699Asp).

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