ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.336_337insGGCAGC (p.Gly112_Ser113insGlySer)

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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 RCV002594989 SCV002956524 uncertain significance Hereditary spastic paraplegia 28 2023-08-17 criteria provided, single submitter clinical testing This variant, c.336_337insGGCAGC, results in the insertion of 2 amino acid(s) of the DDHD1 protein (p.Gly112_Ser113insGlySer), but otherwise preserves the integrity of the reading frame. 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. ClinVar contains an entry for this variant (Variation ID: 1919775). This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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