ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe)

gnomAD frequency: 0.00001  dbSNP: rs747386965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857038 SCV002189664 pathogenic not provided 2024-08-15 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 400 of the ABCC6 protein (p.Ser400Phe). This variant is present in population databases (rs747386965, gnomAD 0.005%). This missense change has been observed in individual(s) with pseudoxanthoma elasticum (PMID: 32873932, 34906475). ClinVar contains an entry for this variant (Variation ID: 433242). 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) has been performed 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. Experimental studies have shown that this missense change affects ABCC6 function (PMID: 34597610). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002481595 SCV002794235 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-05-10 criteria provided, single submitter clinical testing
PXE International RCV000499233 SCV000588973 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-10-05 no assertion criteria provided research

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