ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.38C>T (p.Pro13Leu)

gnomAD frequency: 0.00001  dbSNP: rs759832068
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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 RCV001908083 SCV002140593 uncertain significance Aspartylglucosaminuria 2022-01-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 13 of the AGA protein (p.Pro13Leu). This variant is present in population databases (rs759832068, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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