ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4042G>C (p.Val1348Leu)

dbSNP: rs139246606
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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 RCV001374238 SCV001571036 uncertain significance Familial acute necrotizing encephalopathy 2020-08-29 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 1348 of the RANBP2 protein (p.Val1348Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine.
Ambry Genetics RCV004656580 SCV005156729 uncertain significance not specified 2024-03-25 criteria provided, single submitter clinical testing The c.4042G>C (p.V1348L) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a G to C substitution at nucleotide position 4042, causing the valine (V) at amino acid position 1348 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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