ClinVar Miner

Submissions for variant NM_000361.3(THBD):c.180G>A (p.Met60Ile)

dbSNP: rs2122673111
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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 RCV002017545 SCV002296104 uncertain significance not provided 2021-07-18 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with THBD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 60 of the THBD protein (p.Met60Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV002507781 SCV002814724 uncertain significance Atypical hemolytic-uremic syndrome with thrombomodulin anomaly; Thrombomodulin-related bleeding disorder 2022-04-15 criteria provided, single submitter clinical testing

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