ClinVar Miner

Submissions for variant NM_032797.6(AIFM2):c.812A>C (p.His271Pro)

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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 RCV004623597 SCV005118107 uncertain significance not specified 2024-03-29 criteria provided, single submitter clinical testing The c.812A>C (p.H271P) alteration is located in exon 8 (coding exon 7) of the AIFM2 gene. This alteration results from a A to C substitution at nucleotide position 812, causing the histidine (H) at amino acid position 271 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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