ClinVar Miner

Submissions for variant NM_006509.4(RELB):c.1252G>A (p.Val418Ile)

gnomAD frequency: 0.00001  dbSNP: rs551709862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867677 SCV002134446 uncertain significance not provided 2022-10-17 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1368792). This variant has not been reported in the literature in individuals affected with RELB-related conditions. This variant is present in population databases (rs551709862, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 418 of the RELB protein (p.Val418Ile).
Ambry Genetics RCV004599268 SCV003610616 uncertain significance not specified 2024-03-26 criteria provided, single submitter clinical testing The c.1252G>A (p.V418I) alteration is located in exon 10 (coding exon 10) of the RELB gene. This alteration results from a G to A substitution at nucleotide position 1252, causing the valine (V) at amino acid position 418 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023327 SCV005648372 uncertain significance Immunodeficiency 53 2024-06-04 criteria provided, single submitter clinical testing

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