ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) (rs1320839573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522077 SCV000617524 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing The A114T variant in the ALPL gene has been published in the heterozygous state in association with hypophosphatasia (Tenorio et al., 2017; Whyte et al., 2015). The A114T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A114T variant is a non-conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret A114T as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000709831 SCV000840160 not provided Hypophosphatasia no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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