ClinVar Miner

Submissions for variant NM_005362.4(MAGEA3):c.892C>A (p.His298Asn)

gnomAD frequency: 0.00001  dbSNP: rs1556827170
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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 RCV004143782 SCV003616893 uncertain significance not specified 2022-05-16 criteria provided, single submitter clinical testing The c.892C>A (p.H298N) alteration is located in exon 3 (coding exon 1) of the MAGEA3 gene. This alteration results from a C to A substitution at nucleotide position 892, causing the histidine (H) at amino acid position 298 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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