ClinVar Miner

Submissions for variant NM_148960.3(CLDN19):c.229A>G (p.Ile77Val)

gnomAD frequency: 0.00049  dbSNP: rs140190002
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361322 SCV001557295 uncertain significance not provided 2022-05-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 77 of the CLDN19 protein (p.Ile77Val). This variant is present in population databases (rs140190002, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with CLDN19-related conditions. ClinVar contains an entry for this variant (Variation ID: 1053033). 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 C25"). 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.
Fulgent Genetics, Fulgent Genetics RCV002488098 SCV002776806 likely benign Renal hypomagnesemia 5 with ocular involvement 2024-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547770 SCV003752342 uncertain significance Inborn genetic diseases 2021-10-20 criteria provided, single submitter clinical testing The c.229A>G (p.I77V) alteration is located in exon 2 (coding exon 2) of the CLDN19 gene. This alteration results from a A to G substitution at nucleotide position 229, causing the isoleucine (I) at amino acid position 77 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003898343 SCV004709313 likely benign CLDN19-related disorder 2024-02-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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