ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.2128A>G (p.Thr710Ala)

gnomAD frequency: 0.00002  dbSNP: rs778314127
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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 RCV001897995 SCV002159860 uncertain significance Hereditary spastic paraplegia 28 2022-05-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 717 of the DDHD1 protein (p.Thr717Ala). This variant is present in population databases (rs778314127, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DDHD1-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.
Ambry Genetics RCV004039121 SCV004853872 uncertain significance Inborn genetic diseases 2024-02-12 criteria provided, single submitter clinical testing The c.2128A>G (p.T710A) alteration is located in exon 10 (coding exon 10) of the DDHD1 gene. This alteration results from a A to G substitution at nucleotide position 2128, causing the threonine (T) at amino acid position 710 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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