ClinVar Miner

Submissions for variant NM_015104.3(ATG2A):c.1628C>G (p.Pro543Arg)

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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 RCV004868002 SCV005504632 uncertain significance not specified 2024-11-27 criteria provided, single submitter clinical testing The c.1628C>G (p.P543R) alteration is located in exon 12 (coding exon 12) of the ATG2A gene. This alteration results from a C to G substitution at nucleotide position 1628, causing the proline (P) at amino acid position 543 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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