ClinVar Miner

Submissions for variant NM_175854.8(PAN3):c.121G>T (p.Ala41Ser)

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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 RCV005386408 SCV006047670 uncertain significance not specified 2025-01-08 criteria provided, single submitter clinical testing The c.121G>T (p.A41S) alteration is located in exon 1 (coding exon 1) of the PAN3 gene. This alteration results from a G to T substitution at nucleotide position 121, causing the alanine (A) at amino acid position 41 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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