ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys)

dbSNP: rs767608029
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233721 SCV000836665 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-03-03 criteria provided, single submitter clinical testing 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. 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: 583273). This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. This variant is present in population databases (rs767608029, gnomAD 0.1%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1016 of the WASHC5 protein (p.Tyr1016Cys).

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