ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7463T>C (p.Val2488Ala)

gnomAD frequency: 0.00048  dbSNP: rs189289937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607627 SCV000731013 likely benign not specified 2018-01-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000890560 SCV001034314 likely benign Familial acute necrotizing encephalopathy 2022-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000607627 SCV003707206 uncertain significance not specified 2021-11-30 criteria provided, single submitter clinical testing The c.7463T>C (p.V2488A) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a T to C substitution at nucleotide position 7463, causing the valine (V) at amino acid position 2488 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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