ClinVar Miner

Submissions for variant NM_006375.4(ENOX2):c.1361A>C (p.Glu454Ala)

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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 RCV004914911 SCV005572371 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing The c.1448A>C (p.E483A) alteration is located in exon 13 (coding exon 10) of the ENOX2 gene. This alteration results from a A to C substitution at nucleotide position 1448, causing the glutamic acid (E) at amino acid position 483 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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