ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr)

gnomAD frequency: 0.00007  dbSNP: rs373599521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176753 SCV000228462 uncertain significance not provided 2015-04-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847814 SCV002104809 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852179 SCV002295153 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1099 of the KIAA0196 protein (p.Ile1099Thr). This variant is present in population databases (rs373599521, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with KIAA0196-related conditions. ClinVar contains an entry for this variant (Variation ID: 196031). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIAA0196 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 RCV000176753 SCV004224213 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing BS2, PP3

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