ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.942G>A (p.Pro314=)

gnomAD frequency: 0.00001  dbSNP: rs553429935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058041 SCV001222577 uncertain significance not provided 2024-01-18 criteria provided, single submitter clinical testing This sequence change affects codon 314 of the AGXT mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AGXT protein. This variant also falls at the last nucleotide of exon 9, which is part of the consensus splice site for this exon. This variant is present in population databases (rs553429935, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with AGXT-related conditions. ClinVar contains an entry for this variant (Variation ID: 853262). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Natera, Inc. RCV001276586 SCV001462992 uncertain significance Primary hyperoxaluria, type I 2020-01-17 no assertion criteria provided clinical testing

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