ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1517T>A (p.Ile506Asn)

gnomAD frequency: 0.00002  dbSNP: rs746816406
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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 RCV001883491 SCV002141835 uncertain significance Muscle AMP deaminase deficiency 2022-03-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with AMPD1-related conditions. This variant is present in population databases (rs746816406, gnomAD 0.008%). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 539 of the AMPD1 protein (p.Ile539Asn).

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