ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.266A>G (p.Tyr89Cys)

gnomAD frequency: 0.00004  dbSNP: rs771632283
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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 RCV000803306 SCV000943170 uncertain significance Hereditary spastic paraplegia 28 2022-08-10 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 648556). This variant has not been reported in the literature in individuals affected with DDHD1-related conditions. This variant is present in population databases (rs771632283, gnomAD 0.06%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 89 of the DDHD1 protein (p.Tyr89Cys).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849105 SCV002104591 uncertain significance Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing

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