ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6643C>G (p.Pro2215Ala)

gnomAD frequency: 0.00003  dbSNP: rs775798185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429457 SCV000522587 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000429457 SCV003732801 uncertain significance not specified 2022-11-01 criteria provided, single submitter clinical testing The c.6643C>G (p.P2215A) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a C to G substitution at nucleotide position 6643, causing the proline (P) at amino acid position 2215 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003437178 SCV004148988 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing RANBP2: BP4

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