ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.485G>T (p.Gly162Val)

dbSNP: rs121918012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670940 SCV000795862 uncertain significance Infantile hypophosphatasia 2017-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001239346 SCV001412215 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 162 of the ALPL protein (p.Gly162Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal recessive hypophosphatasia (PMID: 10094560). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as p.Gly145Val. ClinVar contains an entry for this variant (Variation ID: 13676). 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 expected to disrupt ALPL protein function. Experimental studies have shown that this missense change affects ALPL function (PMID: 10332035). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014667 SCV000034922 pathogenic Childhood hypophosphatasia 1999-06-01 no assertion criteria provided literature only

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