ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.428C>G (p.Pro143Arg)

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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 RCV003835342 SCV004630827 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 143 of the ENPP1 protein (p.Pro143Arg). This variant has not been reported in the literature in individuals affected with ENPP1-related conditions. This variant is present in population databases (rs371695495, gnomAD 0.006%). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV005038552 SCV005666655 uncertain significance Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-06-07 criteria provided, single submitter clinical testing

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