ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1904G>C (p.Ser635Thr)

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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 RCV002781309 SCV003031377 uncertain significance Familial acute necrotizing encephalopathy 2022-08-15 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 635 of the RANBP2 protein (p.Ser635Thr). 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.
Ambry Genetics RCV004661476 SCV005156733 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.1904G>C (p.S635T) alteration is located in exon 13 (coding exon 13) of the RANBP2 gene. This alteration results from a G to C substitution at nucleotide position 1904, causing the serine (S) at amino acid position 635 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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