ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1217C>T (p.Thr406Ile)

gnomAD frequency: 0.00011  dbSNP: rs142005917
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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 RCV002740419 SCV003000532 uncertain significance Hereditary spastic paraplegia 28 2022-02-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 413 of the DDHD1 protein (p.Thr413Ile). This variant is present in population databases (rs142005917, gnomAD 0.02%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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 RCV003167673 SCV003884437 uncertain significance Inborn genetic diseases 2023-03-14 criteria provided, single submitter clinical testing The c.1217C>T (p.T406I) alteration is located in exon 4 (coding exon 4) of the DDHD1 gene. This alteration results from a C to T substitution at nucleotide position 1217, causing the threonine (T) at amino acid position 406 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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