ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.914C>T (p.Thr305Met)

gnomAD frequency: 0.00012  dbSNP: rs146908399
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242767 SCV001415875 uncertain significance not provided 2022-05-10 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 305 of the ALPL protein (p.Thr305Met). This variant is present in population databases (rs146908399, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ALPL-related conditions. ClinVar contains an entry for this variant (Variation ID: 967775). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ALPL protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002499406 SCV002778365 uncertain significance Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-03-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001242767 SCV004229717 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Natera, Inc. RCV001835139 SCV002094079 uncertain significance Hypophosphatasia 2020-02-26 no assertion criteria provided clinical testing

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