ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7864A>C (p.Lys2622Gln)

gnomAD frequency: 0.00004  dbSNP: rs749548826
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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 RCV001350001 SCV001544371 uncertain significance Familial acute necrotizing encephalopathy 2020-09-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 2622 of the RANBP2 protein (p.Lys2622Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RANBP2-related conditions. This variant is present in population databases (rs749548826, ExAC 0.009%).
Ambry Genetics RCV004036602 SCV004934425 uncertain significance not specified 2022-09-07 criteria provided, single submitter clinical testing The c.7864A>C (p.K2622Q) alteration is located in exon 21 (coding exon 21) of the RANBP2 gene. This alteration results from a A to C substitution at nucleotide position 7864, causing the lysine (K) at amino acid position 2622 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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