ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.226_227delinsTA (p.Gly76Tyr)

dbSNP: rs797045521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193156 SCV000247178 uncertain significance not specified 2015-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001705079 SCV000569111 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000707283 SCV000836373 uncertain significance Hereditary spastic paraplegia 54 2025-01-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 76 of the DDHD2 protein (p.Gly76Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with DDHD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 210840). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.

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