ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.757G>A (p.Val253Ile)

gnomAD frequency: 0.00003  dbSNP: rs151270365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500224 SCV000593126 uncertain significance not specified 2016-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002461252 SCV002757132 uncertain significance not provided 2022-05-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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