ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.963del (p.Lys322fs)

dbSNP: rs1553414133
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667084 SCV000791480 likely pathogenic Infantile hypophosphatasia 2017-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465462 SCV004193217 pathogenic Adult hypophosphatasia 2023-03-11 criteria provided, single submitter clinical testing
Invitae RCV003558490 SCV004291731 pathogenic not provided 2022-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys322Argfs*44) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551914). This premature translational stop signal has been observed in individual(s) with hypophosphatasia (PMID: 12815606).

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