ClinVar Miner

Submissions for variant NM_000317.3(PTS):c.179A>C (p.His60Pro)

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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 RCV005259083 SCV005925452 uncertain significance Inborn genetic diseases 2025-01-20 criteria provided, single submitter clinical testing The c.179A>C (p.H60P) alteration is located in exon 3 (coding exon 3) of the PTS gene. This alteration results from a A to C substitution at nucleotide position 179, causing the histidine (H) at amino acid position 60 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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