ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.978T>G (p.Phe326Leu)

dbSNP: rs373878347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001280245 SCV003266960 uncertain significance Aspartylglucosaminuria 2022-03-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 326 of the AGA protein (p.Phe326Leu). This variant is present in population databases (rs373878347, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. ClinVar contains an entry for this variant (Variation ID: 991944). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Natera, Inc. RCV001280245 SCV001467407 uncertain significance Aspartylglucosaminuria 2020-04-16 no assertion criteria provided clinical testing

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