ClinVar Miner

Submissions for variant NM_024420.3(PLA2G4A):c.637T>C (p.Tyr213His)

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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 RCV002967844 SCV003289793 likely benign not provided 2025-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004065089 SCV003623529 uncertain significance not specified 2022-04-08 criteria provided, single submitter clinical testing The c.637T>C (p.Y213H) alteration is located in exon 8 (coding exon 7) of the PLA2G4A gene. This alteration results from a T to C substitution at nucleotide position 637, causing the tyrosine (Y) at amino acid position 213 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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