ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.1246C>T (p.His416Tyr)

gnomAD frequency: 0.00003  dbSNP: rs371747861
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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 RCV002238821 SCV002509075 uncertain significance Short-rib thoracic dysplasia 11 with or without polydactyly 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 416 of the WDR34 protein (p.His416Tyr). This variant is present in population databases (rs371747861, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with WDR34-related conditions. ClinVar contains an entry for this variant (Variation ID: 1681189). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV003250470 SCV003951600 uncertain significance Inborn genetic diseases 2023-03-16 criteria provided, single submitter clinical testing The c.1246C>T (p.H416Y) alteration is located in exon 8 (coding exon 8) of the WDR34 gene. This alteration results from a C to T substitution at nucleotide position 1246, causing the histidine (H) at amino acid position 416 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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