ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.312T>G (p.Asp104Glu)

gnomAD frequency: 0.00001  dbSNP: rs765795609
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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 RCV001950127 SCV002200657 uncertain significance Hereditary spastic paraplegia 54 2021-07-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs765795609, ExAC 0.02%). This sequence change replaces aspartic acid with glutamic acid at codon 104 of the DDHD2 protein (p.Asp104Glu). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant has not been reported in the literature in individuals affected with DDHD2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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