ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1235C>T (p.Ala412Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002751285 SCV003019936 uncertain significance Muscle AMP deaminase deficiency 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 445 of the AMPD1 protein (p.Ala445Val). This variant is present in population databases (rs770870863, gnomAD 0.003%). This missense change has been observed in individual(s) with AMPD1-related conditions (PMID: 34490048). ClinVar contains an entry for this variant (Variation ID: 1981141). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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