ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.743C>T (p.Ala248Val)

gnomAD frequency: 0.00001  dbSNP: rs372482918
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436183 SCV000523747 uncertain significance not provided 2016-02-13 criteria provided, single submitter clinical testing The A248V variant in the AGXT gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A248V variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A248V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. However, missense variants in nearby residues (D243H and I244T) have been reported in the Human Gene Mutation Database in association with PH1 (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret A248V as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV001276582 SCV002790791 uncertain significance Primary hyperoxaluria, type I 2022-02-24 criteria provided, single submitter clinical testing
Invitae RCV000436183 SCV003448837 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243122 SCV003940037 uncertain significance Inborn genetic diseases 2023-03-29 criteria provided, single submitter clinical testing The c.743C>T (p.A248V) alteration is located in exon 7 (coding exon 7) of the AGXT gene. This alteration results from a C to T substitution at nucleotide position 743, causing the alanine (A) at amino acid position 248 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001276582 SCV001462987 uncertain significance Primary hyperoxaluria, type I 2019-10-28 no assertion criteria provided clinical testing

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