ClinVar Miner

Submissions for variant NM_000027.3(AGA):c.302C>T (p.Ala101Val) (rs121964908)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000247 SCV000794003 likely pathogenic Aspartylglucosaminuria 2017-09-06 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000000247 SCV000494233 likely pathogenic Aspartylglucosaminuria 2016-04-15 criteria provided, single submitter clinical testing The c.302C>T (p.Ala101Val) missense variant in the AGA gene has been previously reported in two individuals affected with Aspartylglucosaminuria (Ikonen et al., 1991). In one of the affected individuals, this variant was observed in trans with a pathogenic variant (c.102_108del, p.Trp34*) (Ikonen et al., 1991). This variant is located at the dimer interface of the protein and is thus predicted to affect protein interaction and dimerization; additional, in vitro functional studies have shown the enzymatic activity was undetectable when this variant was introduced (Saito et al., 2008). This variant is reported at low frequency in the population databases (Exome Sequencing Project = 0%; 1000 Genomes = NA; and ExAC = 0.006%). Multiple in silico algorithms predict this variant to have a deleterious effect (GERP = 5.93; CADD = 36; PolyPhen = 1.0; SIFT = 0.0). AGA is the only gene in which pathogenic variants are known to cause Aspartylglucosaminuria. Therefore, this collective evidence supports the classification of the c.302C>T (p.Ala101Val) as a Likely pathogenic variant for Aspartylglucosaminuria. We have confirmed this finding in our laboratory using Sanger sequencing.
OMIM RCV000000247 SCV000020391 pathogenic Aspartylglucosaminuria 1991-12-15 no assertion criteria provided literature only

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