ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4514C>T (p.Pro1505Leu)

gnomAD frequency: 0.00004  dbSNP: rs773526624
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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 RCV000817240 SCV000957790 uncertain significance Familial acute necrotizing encephalopathy 2022-02-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 660110). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs773526624, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1505 of the RANBP2 protein (p.Pro1505Leu).
Ambry Genetics RCV004669139 SCV005156725 uncertain significance not specified 2024-04-17 criteria provided, single submitter clinical testing The c.4514C>T (p.P1505L) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a C to T substitution at nucleotide position 4514, causing the proline (P) at amino acid position 1505 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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