ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.629C>T (p.Pro210Leu)

dbSNP: rs780689247
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002238856 SCV002509080 uncertain significance Short-rib thoracic dysplasia 11 with or without polydactyly 2023-08-04 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1681236). This variant has not been reported in the literature in individuals affected with WDR34-related conditions. 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 sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 210 of the WDR34 protein (p.Pro210Leu).

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