ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe)

dbSNP: rs1554593899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000585718 SCV000693455 likely pathogenic Hereditary spastic paraplegia 8 2017-08-07 criteria provided, single submitter clinical testing
Invitae RCV001069360 SCV001234524 pathogenic Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2022-06-20 criteria provided, single submitter clinical testing 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 expected to disrupt WASHC5 protein function. ClinVar contains an entry for this variant (Variation ID: 495056). This missense change has been observed in individuals with clinical features of hereditary spastic paraplegia (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 591 of the WASHC5 protein (p.Ser591Phe). This variant disrupts the p.Ser591 amino acid residue in WASHC5. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24824269). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268029 SCV001446617 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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