ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.5dup (p.Asn2fs)

dbSNP: rs2139941138
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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 RCV001383663 SCV001582883 pathogenic Hereditary spastic paraplegia 28 2020-06-12 criteria provided, single submitter clinical testing Loss-of-function variants in DDHD1 are known to be pathogenic (PMID: 23176821, 24989667, 26944165, 27216551). This variant has not been reported in the literature in individuals with DDHD1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asn2Lysfs*14) in the DDHD1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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