ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) (rs1554593901)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555090 SCV000636810 pathogenic Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 591 of the WASHC5 protein (p.Ser591Pro). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hereditary spastic paraplegia (PMID: 24824269, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 463137). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000825002 SCV000966194 likely pathogenic Hereditary spastic paraplegia 8 2018-05-09 criteria provided, single submitter clinical testing

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