ClinVar Miner

Submissions for variant NM_133443.4(GPT2):c.371G>C (p.Ser124Thr)

gnomAD frequency: 0.00005  dbSNP: rs776650490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333493 SCV001526086 uncertain significance Glutamate pyruvate transaminase 2 deficiency 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546635 SCV003717662 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.371G>C (p.S124T) alteration is located in exon 4 (coding exon 3) of the GPT2 gene. This alteration results from a G to C substitution at nucleotide position 371, causing the serine (S) at amino acid position 124 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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