ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.2858T>A (p.Leu953His)

gnomAD frequency: 0.00003  dbSNP: rs72657700
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499181 SCV000589033 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum 2021-02-02 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001857044 SCV002182613 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 953 of the ABCC6 protein (p.Leu953His). This variant is present in population databases (rs72657700, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of pseudoxanthoma elasticum (PMID: 11536079, 34906475). ClinVar contains an entry for this variant (Variation ID: 433297). 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%. 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.
Revvity Omics, Revvity RCV001857044 SCV003824354 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010422 SCV005638874 likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-03-01 criteria provided, single submitter clinical testing

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