ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.55G>C (p.Gly19Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004956863 SCV005460953 uncertain significance Inborn genetic diseases 2024-10-03 criteria provided, single submitter clinical testing The c.55G>C (p.G19R) alteration is located in exon 1 (coding exon 1) of the PAH gene. This alteration results from a G to C substitution at nucleotide position 55, causing the glycine (G) at amino acid position 19 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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