ClinVar Miner

Submissions for variant NM_002661.5(PLCG2):c.923C>T (p.Ala308Val)

gnomAD frequency: 0.00104  dbSNP: rs199636472
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540341 SCV000652189 benign Familial cold autoinflammatory syndrome 3 2024-02-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768283 SCV000898884 uncertain significance Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2021-03-30 criteria provided, single submitter clinical testing PLCG2 NM_002661.4 exon 11 p.Ala308Val (c.923C>T): This variant has not been reported in the literature but is present in 0.5% (58/10152) of Ashkenazi Jewish alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/16-81925132-C-T). This variant is present in ClinVar (Variation ID:472906). This variant amino acid Valine (Val) is present in >30 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Baylor Genetics RCV001336487 SCV001529884 uncertain significance Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 2018-07-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV001702518 SCV002563354 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PLCG2: BP4, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702518 SCV001928352 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702518 SCV001966776 likely benign not provided no assertion criteria provided clinical testing

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