ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.344G>A (p.Trp115Ter)

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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 RCV005136737 SCV005768258 pathogenic Hereditary spastic paraplegia 54 2024-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp115*) in the DDHD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DDHD2 are known to be pathogenic (PMID: 23176823, 23486545). This variant is present in population databases (rs745871510, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with DDHD2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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