ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.127G>A (p.Gly43Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004979572 SCV005574863 uncertain significance Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing The c.127G>A (p.G43S) alteration is located in exon 1 (coding exon 1) of the AGPS gene. This alteration results from a G to A substitution at nucleotide position 127, causing the glycine (G) at amino acid position 43 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023761 SCV005655650 uncertain significance Rhizomelic chondrodysplasia punctata type 3 2024-06-04 criteria provided, single submitter clinical testing

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