ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1553G>T (p.Cys518Phe)

gnomAD frequency: 0.00001  dbSNP: rs1291109043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848391 SCV002104576 uncertain significance Hereditary spastic paraplegia 2017-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034755 SCV002224654 uncertain significance Hereditary spastic paraplegia 28 2021-11-23 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 525 of the DDHD1 protein (p.Cys525Phe).

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