ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.577C>G (p.His193Asp)

gnomAD frequency: 0.00001  dbSNP: rs1032603937
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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 RCV000816290 SCV000956791 benign Familial cold autoinflammatory syndrome 3 2023-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413644 SCV004109821 uncertain significance PLCG2-related disorder 2023-02-05 criteria provided, single submitter clinical testing The PLCG2 c.577C>G variant is predicted to result in the amino acid substitution p.His193Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-81904469-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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