ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.247C>G (p.Arg83Gly)

gnomAD frequency: 0.00001  dbSNP: rs748313651
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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 RCV002021155 SCV002297631 uncertain significance not provided 2023-01-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 83 of the THBD protein (p.Arg83Gly). This variant is present in population databases (rs748313651, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with THBD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1515513). 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. 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 RCV002486722 SCV002780900 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2021-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671622 SCV005170893 uncertain significance Inborn genetic diseases 2024-05-08 criteria provided, single submitter clinical testing The c.247C>G (p.R83G) alteration is located in exon 1 (coding exon 1) of the THBD gene. This alteration results from a C to G substitution at nucleotide position 247, causing the arginine (R) at amino acid position 83 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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