ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.568C>T (p.Arg190Ter)

gnomAD frequency: 0.00001  dbSNP: rs377293194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999025 SCV001155410 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000999025 SCV001793381 pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001858893 SCV002230686 pathogenic Hereditary spastic paraplegia 54 2022-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 810276). This variant has not been reported in the literature in individuals affected with DDHD2-related conditions. This variant is present in population databases (rs377293194, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Arg190*) 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).

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