ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.2541del (p.Ile847fs)

dbSNP: rs1882057104
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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 RCV001304778 SCV001494076 uncertain significance Hereditary spastic paraplegia 28 2020-12-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DDHD1 gene (p.Ile826Metfs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acids of the DDHD1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of hereditary spastic paraplegia (Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the protein in which other variant(s) (p.Leu830Pro) have been observed in individuals with DDHD1-related conditions (Invitae). This suggests that this may be a clinically significant region of the DDHD1 protein. 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.

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