ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.1604C>T (p.Ala535Val)

dbSNP: rs758735687
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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 RCV002238801 SCV002509054 uncertain significance Short-rib thoracic dysplasia 11 with or without polydactyly 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 535 of the WDR34 protein (p.Ala535Val). 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 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1681162). This variant has not been reported in the literature in individuals affected with WDR34-related conditions. This variant is present in population databases (rs758735687, gnomAD 0.007%).

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