ClinVar Miner

Submissions for variant NM_002085.5(GPX4):c.85-294G>T

dbSNP: rs368897080
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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 RCV002855647 SCV003635637 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.158G>T (p.R53L) alteration is located in exon 1 (coding exon 1) of the GPX4 gene. This alteration results from a G to T substitution at nucleotide position 158, causing the arginine (R) at amino acid position 53 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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