Submissions for variant NM_017999.5(RNF31):c.415G>A (p.Glu139Lys)

gnomAD frequency: 0.00376  dbSNP: rs45466595

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520322	SCV001729389	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001520322	SCV002822130	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	RNF31: BP4, BS2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV001520322	SCV003924143	uncertain significance	not provided	2022-07-12	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.5% (402/68050) (https://gnomad.broadinstitute.org/variant/14-24148333-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:1169281). This variant amino acid Lysine (Lys) is present in several species including multiple mammals 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001520322	SCV005290221	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001520322	SCV001929132	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001520322	SCV001975452	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003921157	SCV004736182	likely benign	RNF31-related disorder	2020-05-22	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).