ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.518+13T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002957677 SCV003271455 uncertain significance Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2022-10-05 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with WASHC5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 5 of the WASHC5 gene. It does not directly change the encoded amino acid sequence of the WASHC5 protein.

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