ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.824C>T (p.Ala275Val) (rs748318386)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624471 SCV000742695 likely pathogenic Inborn genetic diseases 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000196487 SCV000251181 likely pathogenic not provided 2014-07-25 criteria provided, single submitter clinical testing p.Ala275Val (GCG>GTG): c.824 C>T in exon 7 of the AUH gene (NM_001698.2). A c.824 C>T sequence change likely associated with 3-methylglutaconic aciduria type 1 was identified in the AUH gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. If the protein was transcribed normally, this would lead to the replacement of an Alanine codon (GCG) with a Valine codon (GTG) at amino acid position 275. However, the c.824 C>T nucleotide substitution most likely appears to result in an error in gene splicing. This substitution occurs 21 nucleotides upstream from the canonical GT splice donor site in intron 7. Multiple splice prediction models predict that this substitution creates a cryptic splice donor site that is stronger than the natural donor site. Use of the cryptic splice site is expected to lead to abnormal gene splicing which would be expected to create an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Therefore, c.824 C>T is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MGA-MITOP panel(s).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000196487 SCV000802707 uncertain significance not provided 2016-03-04 no assertion criteria provided clinical testing

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