ClinVar Miner

Submissions for variant NM_006164.5(NFE2L2):c.1163T>C (p.Val388Ala)

gnomAD frequency: 0.00004  dbSNP: rs772306849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998655 SCV002259191 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042367 SCV004987707 uncertain significance not specified 2023-12-17 criteria provided, single submitter clinical testing The c.1163T>C (p.V388A) alteration is located in exon 5 (coding exon 5) of the NFE2L2 gene. This alteration results from a T to C substitution at nucleotide position 1163, causing the valine (V) at amino acid position 388 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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