ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.818C>T (p.Thr273Met)

gnomAD frequency: 0.00106  dbSNP: rs148405563
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000710516 SCV000342299 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263557 SCV000354303 benign Hypophosphatasia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000710516 SCV000566451 likely benign not provided 2021-02-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21956185, 27042741, 30564332, 32803091)
Athena Diagnostics RCV000710516 SCV000840754 benign not provided 2017-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710516 SCV001110181 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820834 SCV002066752 likely benign not specified 2021-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519300 SCV003682748 benign Inborn genetic diseases 2022-01-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000710516 SCV004123405 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ALPL: BS2
JKU Lab, Dept of Paediatrics, Johannes Kepler University RCV000263557 SCV004174863 uncertain significance Hypophosphatasia 2022-10-19 criteria provided, single submitter clinical testing Further details and the ACMG criteria applied can be looked up in the ALPL gene variant database. https://alplmutationdatabase.jku.at/
Natera, Inc. RCV000263557 SCV001463897 benign Hypophosphatasia 2020-01-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004549605 SCV004774190 likely benign ALPL-related disorder 2024-02-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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