ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2095G>A (p.Glu699Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002591078 SCV002958333 uncertain significance not provided 2023-07-17 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCC6 protein function. ClinVar contains an entry for this variant (Variation ID: 1920290). This missense change has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 34205333). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 699 of the ABCC6 protein (p.Glu699Lys).
Fulgent Genetics, Fulgent Genetics RCV005019274 SCV005638918 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-01-03 criteria provided, single submitter clinical testing

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