ClinVar Miner

Submissions for variant NM_012073.5(CCT5):c.1051G>A (p.Glu351Lys)

gnomAD frequency: 0.00006  dbSNP: rs140095139
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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 RCV000641268 SCV000762907 uncertain significance Hereditary sensory and autonomic neuropathy with spastic paraplegia 2024-12-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 351 of the CCT5 protein (p.Glu351Lys). This variant is present in population databases (rs140095139, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CCT5-related conditions. ClinVar contains an entry for this variant (Variation ID: 533941). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt CCT5 protein function with a negative predictive value of 80%. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001508168 SCV001714135 uncertain significance not provided 2019-10-27 criteria provided, single submitter clinical testing

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