ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.411+6C>T

gnomAD frequency: 0.00021  dbSNP: rs562827417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848408 SCV002104618 uncertain significance Hereditary spastic paraplegia 2020-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034757 SCV002298785 uncertain significance Hereditary spastic paraplegia 54 2022-10-24 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the DDHD2 gene. It does not directly change the encoded amino acid sequence of the DDHD2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs562827417, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DDHD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1344305). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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