ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.3104G>A (p.Arg1035His)

gnomAD frequency: 0.00001  dbSNP: rs761500521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319593 SCV001510344 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2023-04-17 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 not expected to disrupt WASHC5 protein function. ClinVar contains an entry for this variant (Variation ID: 410081). This missense change has been observed in individual(s) with WASHC5-related conditions (PMID: 32816195). This variant is present in population databases (rs761500521, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1035 of the WASHC5 protein (p.Arg1035His).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848812 SCV002104804 uncertain significance Hereditary spastic paraplegia 2017-11-05 criteria provided, single submitter clinical testing

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