ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.365C>A (p.Thr122Lys)

dbSNP: rs771563230
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092652 SCV001249261 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Invitae RCV000673721 SCV002233214 pathogenic Aspartylglucosaminuria 2023-08-30 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects AGA function (PMID: 27876883). For these reasons, this variant has been classified as Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on AGA protein function. ClinVar contains an entry for this variant (Variation ID: 557564). This missense change has been observed in individual(s) with aspartylglucosaminuria (PMID: 27876883, 30564628). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs771563230, gnomAD 0.0009%). This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 122 of the AGA protein (p.Thr122Lys).
Baylor Genetics RCV000673721 SCV004214242 likely pathogenic Aspartylglucosaminuria 2023-02-15 criteria provided, single submitter clinical testing
Counsyl RCV000673721 SCV000798956 uncertain significance Aspartylglucosaminuria 2018-04-04 flagged submission clinical testing

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