ClinVar Miner

Submissions for variant NM_002085.5(GPX4):c.385A>G (p.Met129Val)

dbSNP: rs779141388
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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 RCV001933562 SCV002205187 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV005350766 SCV006009342 uncertain significance Inborn genetic diseases 2025-01-31 criteria provided, single submitter clinical testing The c.496A>G (p.M166V) alteration is located in exon 4 (coding exon 4) of the GPX4 gene. This alteration results from a A to G substitution at nucleotide position 496, causing the methionine (M) at amino acid position 166 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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