ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3908G>C (p.Ser1303Thr)

dbSNP: rs561666429
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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 RCV001233640 SCV001406244 uncertain significance Familial acute necrotizing encephalopathy 2019-10-15 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1303 of the RANBP2 protein (p.Ser1303Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs561666429, ExAC 0.006%). This variant has not been reported in the literature in individuals with RANBP2-related conditions. 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. 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 RCV004671282 SCV005162975 uncertain significance not specified 2024-05-28 criteria provided, single submitter clinical testing The c.3908G>C (p.S1303T) 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 3908, causing the serine (S) at amino acid position 1303 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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