ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1250C>A (p.Ala417Asp)

gnomAD frequency: 0.00001  dbSNP: rs376393703
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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 RCV000690965 SCV000818696 uncertain significance Hereditary spastic paraplegia 54 2021-08-01 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DDHD2-related disease. This variant is present in population databases (rs376393703, ExAC 0.007%). This sequence change replaces alanine with aspartic acid at codon 417 of the DDHD2 protein (p.Ala417Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid.

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