ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.322_327dup (p.Ser108_Gly109dup)

gnomAD frequency: 0.00004  dbSNP: rs747912386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001578119 SCV001805654 uncertain significance not provided 2019-08-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-frame duplication of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002568507 SCV003474911 uncertain significance Hereditary spastic paraplegia 28 2022-08-31 criteria provided, single submitter clinical testing This variant, c.322_327dup, results in the insertion of 2 amino acid(s) of the DDHD1 protein (p.Ser108_Gly109dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs747912386, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1209452). 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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