ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)

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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 RCV002891510 SCV003644634 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.428A>C (p.Q143P) alteration is located in exon 4 (coding exon 4) of the AMPD1 gene. This alteration results from a A to C substitution at nucleotide position 428, causing the glutamine (Q) at amino acid position 143 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140179 SCV003826240 uncertain significance Muscle AMP deaminase deficiency 2019-11-06 criteria provided, single submitter clinical testing

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