ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.705A>C (p.Val235=)

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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 RCV003042922 SCV003336053 uncertain significance Aspartylglucosaminuria 2022-03-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This variant has not been reported in the literature in individuals affected with AGA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 235 of the AGA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AGA protein.

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