ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.1348A>T (p.Ile450Phe)

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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 RCV002720602 SCV003001316 uncertain significance not provided 2022-03-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ENPP1-related conditions. This variant is present in population databases (rs767598458, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 450 of the ENPP1 protein (p.Ile450Phe).
Ambry Genetics RCV004617084 SCV005114882 uncertain significance Inborn genetic diseases 2024-03-29 criteria provided, single submitter clinical testing The c.1348A>T (p.I450F) alteration is located in exon 13 (coding exon 13) of the ENPP1 gene. This alteration results from a A to T substitution at nucleotide position 1348, causing the isoleucine (I) at amino acid position 450 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005034381 SCV005666679 uncertain significance Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-04-29 criteria provided, single submitter clinical testing

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