ClinVar Miner

Submissions for variant NM_004357.5(CD151):c.164G>A (p.Gly55Asp)

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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 RCV002639767 SCV002979397 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 55 of the CD151 protein (p.Gly55Asp). This variant is present in population databases (rs769690275, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CD151-related conditions. ClinVar contains an entry for this variant (Variation ID: 1944435). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 RCV005008684 SCV005631852 uncertain significance Epidermolysis bullosa simplex 7, with nephropathy and deafness; RAPH BLOOD GROUP SYSTEM 2024-05-15 criteria provided, single submitter clinical testing

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