ClinVar Miner

Submissions for variant NM_012073.5(CCT5):c.1310C>T (p.Ala437Val)

gnomAD frequency: 0.00004  dbSNP: rs149067488
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698154 SCV000826798 uncertain significance Hereditary sensory and autonomic neuropathy with spastic paraplegia 2024-06-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 437 of the CCT5 protein (p.Ala437Val). This variant is present in population databases (rs149067488, gnomAD 0.007%). 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: 575826). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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