ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.2417G>A (p.Arg806His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004979806 SCV005572393 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.2417G>A (p.R806H) alteration is located in exon 23 (coding exon 23) of the ENPP1 gene. This alteration results from a G to A substitution at nucleotide position 2417, causing the arginine (R) at amino acid position 806 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040844 SCV005666724 uncertain significance Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-05-10 criteria provided, single submitter clinical testing

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