ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.1533G>C (p.Gln511His)

gnomAD frequency: 0.00131  dbSNP: rs151013036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887894 SCV001031485 benign Familial cold autoinflammatory syndrome 3 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028371 SCV005006928 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.1533G>C (p.Q511H) alteration is located in exon 16 (coding exon 15) of the PLCG2 gene. This alteration results from a G to C substitution at nucleotide position 1533, causing the glutamine (Q) at amino acid position 511 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004742676 SCV005356948 likely benign PLCG2-related disorder 2024-04-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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