ClinVar Miner

Submissions for variant NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys)

gnomAD frequency: 0.00001  dbSNP: rs758630897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001028041 SCV001521583 uncertain significance Grebe syndrome 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002552015 SCV003319488 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 361 of the GDF5 protein (p.Arg361Cys). This variant has not been reported in the literature in individuals affected with GDF5-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 828159).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028041 SCV001190808 uncertain significance Grebe syndrome 2020-02-05 no assertion criteria provided clinical testing

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