ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.770C>T (p.Thr257Ile)

gnomAD frequency: 0.00001  dbSNP: rs386833434
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000049362 SCV003525620 uncertain significance Aspartylglucosaminuria 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 257 of the AGA protein (p.Thr257Ile). This variant is present in population databases (rs386833434, gnomAD 0.004%). 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. Experimental studies have shown that this missense change affects AGA function (PMID: 11309371, 29993127). 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"). ClinVar contains an entry for this variant (Variation ID: 55953). This variant is also known as Thr234Ile. This missense change has been observed in individual(s) with aspartylglucosaminuria (PMID: 11309371).
Baylor Genetics RCV000049362 SCV004217649 likely pathogenic Aspartylglucosaminuria 2023-08-21 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049362 SCV000081794 probable-pathogenic Aspartylglucosaminuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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