ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.2422A>G (p.Ile808Val)

gnomAD frequency: 0.00024  dbSNP: rs144507279
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416031 SCV000493345 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001201348 SCV000760070 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 808 of the WASHC5 protein (p.Ile808Val). This variant is present in population databases (rs144507279, gnomAD 0.03%). This missense change has been observed in individual(s) with hereditary spastic paraplegia (HSP) (PMID: 27957547). ClinVar contains an entry for this variant (Variation ID: 374553). 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 WASHC5 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.
Fulgent Genetics, Fulgent Genetics RCV000638546 SCV000897418 uncertain significance Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000416031 SCV001714890 uncertain significance not provided 2020-01-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848738 SCV002104793 uncertain significance Hereditary spastic paraplegia 2016-12-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000416031 SCV003823681 uncertain significance not provided 2023-08-21 criteria provided, single submitter clinical testing

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