ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.376C>G (p.Leu126Val)

gnomAD frequency: 0.00078  dbSNP: rs200420067
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805244 SCV000945192 uncertain significance Aspartylglucosaminuria 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 126 of the AGA protein (p.Leu126Val). This variant is present in population databases (rs200420067, gnomAD 0.1%). 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: 650146). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AGA 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.
Illumina Laboratory Services, Illumina RCV000805244 SCV001306084 uncertain significance Aspartylglucosaminuria 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV002279539 SCV002564519 uncertain significance Neurodevelopmental disorder 2022-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000805244 SCV002797084 uncertain significance Aspartylglucosaminuria 2022-04-07 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251880 SCV001427626 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Natera, Inc. RCV000805244 SCV001461150 uncertain significance Aspartylglucosaminuria 2020-04-16 no assertion criteria provided clinical testing

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