ClinVar Miner

Submissions for variant NM_006580.4(CLDN16):c.-116G>T

gnomAD frequency: 0.00001  dbSNP: rs763354782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001148671 SCV001309579 uncertain significance Primary hypomagnesemia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001858974 SCV002178920 uncertain significance not provided 2022-02-10 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: 902251). This variant has not been reported in the literature in individuals affected with CLDN16-related conditions. This variant is present in population databases (rs763354782, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 32 of the CLDN16 protein (p.Arg32Ile).
Ambry Genetics RCV003373000 SCV004063904 uncertain significance Inborn genetic diseases 2023-06-21 criteria provided, single submitter clinical testing The c.95G>T (p.R32I) alteration is located in exon 1 (coding exon 1) of the CLDN16 gene. This alteration results from a G to T substitution at nucleotide position 95, causing the arginine (R) at amino acid position 32 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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