ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.346C>T (p.Arg116Trp) (rs386833423)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049351 SCV001574483 likely pathogenic Aspartylglucosaminuria 2020-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 116 of the AGA protein (p.Arg116Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with aspartylglucosaminuria (PMID: 23271757). ClinVar contains an entry for this variant (Variation ID: 55942). This variant has been reported to affect AGA protein function (PMID: 27876883). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049351 SCV000081783 probable-pathogenic Aspartylglucosaminuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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