ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)

dbSNP: rs755529290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169514 SCV000220984 likely pathogenic Infantile hypophosphatasia 2014-12-23 criteria provided, single submitter literature only
Invitae RCV001850403 SCV002130241 pathogenic not provided 2023-09-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189102). This premature translational stop signal has been observed in individual(s) with a child with hypophosphatasia (PMID: 20049532). This variant is present in population databases (rs755529290, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Tyr297*) in the ALPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALPL are known to be pathogenic (PMID: 3174660, 10679946, 32973344, 33814268).
Baylor Genetics RCV003468845 SCV004191870 pathogenic Adult hypophosphatasia 2023-10-20 criteria provided, single submitter clinical testing

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