ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.649C>T (p.His217Tyr)

gnomAD frequency: 0.00001  dbSNP: rs763070208
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038101 SCV002273007 uncertain significance Aspartylglucosaminuria 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 217 of the AGA protein (p.His217Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs763070208, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.

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