ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.900C>A (p.Phe300Leu)

dbSNP: rs2111006859
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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 RCV001897890 SCV002156981 uncertain significance Aspartylglucosaminuria 2021-12-02 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AGA-related conditions. 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 300 of the AGA protein (p.Phe300Leu).

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