ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.219C>A (p.Asn73Lys)

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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 RCV002891437 SCV003642980 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The c.219C>A (p.N73K) alteration is located in exon 1 (coding exon 1) of the ENPP1 gene. This alteration results from a C to A substitution at nucleotide position 219, causing the asparagine (N) at amino acid position 73 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036576 SCV005667170 uncertain significance Arterial calcification, generalized, of infancy, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Hypopigmentation-punctate palmoplantar keratoderma syndrome; Inherited obesity 2024-05-20 criteria provided, single submitter clinical testing

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