ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1729C>T (p.Arg577Ter)

gnomAD frequency: 0.00001  dbSNP: rs776191400
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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 RCV003069963 SCV003470753 pathogenic Hereditary spastic paraplegia 28 2023-05-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2158823). This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. This variant is present in population databases (rs776191400, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Arg584*) in the DDHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DDHD1 are known to be pathogenic (PMID: 23176821, 24989667, 26944165, 27216551).

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