ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.2192del (p.Asn731fs)

dbSNP: rs2114726975
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomenon, Inc, Genomenon, Inc RCV002273895 SCV002558775 pathogenic Arterial calcification, generalized, of infancy, 1; Hypophosphatemic rickets, autosomal recessive, 2 2022-03-16 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV005095982 SCV005799025 pathogenic not provided 2024-04-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn731Ilefs*5) in the ENPP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENPP1 are known to be pathogenic (PMID: 12881724, 15605415, 16369898, 20016754, 20137773, 22539483). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ENPP1-related conditions (PMID: 36150100). ClinVar contains an entry for this variant (Variation ID: 1699973). For these reasons, this variant has been classified as Pathogenic.

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