ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg)

dbSNP: rs1816420898
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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 RCV001055513 SCV001219911 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2021-11-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 628 of the WASHC5 protein (p.Gln628Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 851171). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GenomeConnect - Invitae Patient Insights Network RCV001535453 SCV001749370 not provided Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-11-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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