ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.2080G>A (p.Val694Ile)

gnomAD frequency: 0.00002  dbSNP: rs370808506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245550 SCV001418845 uncertain significance Hereditary spastic paraplegia 54 2021-10-08 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 694 of the DDHD2 protein (p.Val694Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs370808506, ExAC 0.006%). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV001245550 SCV001439955 uncertain significance Hereditary spastic paraplegia 54 2019-01-01 criteria provided, single submitter clinical testing

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