ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.2375A>G (p.Asn792Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005037894 SCV005666721 pathogenic Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-03-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005105262 SCV005834523 pathogenic not provided 2024-09-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 792 of the ENPP1 protein (p.Asn792Ser). This variant is present in population databases (rs370184526, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with autosomal recessive generalized arterial calcification of infancy (PMID: 12881724, 20016754). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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 ENPP1 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects ENPP1 function (PMID: 12881724). For these reasons, this variant has been classified as Pathogenic.

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