ClinVar Miner

Submissions for variant NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter)

dbSNP: rs267606784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044349 SCV001208140 pathogenic not provided 2022-09-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 13597). This premature translational stop signal has been observed in individual(s) with ENPP1-related conditions (PMID: 19206175, 29141319; Invitae). This variant is present in population databases (rs267606784, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Tyr261*) 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).
OMIM RCV000014567 SCV000034821 pathogenic Arterial calcification, generalized, of infancy, 1 2012-01-13 no assertion criteria provided literature only

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