ClinVar Miner

Submissions for variant NM_052844.4(DYNC2I2):c.44G>A (p.Ser15Asn)

dbSNP: rs752793349
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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 RCV002239583 SCV002509023 uncertain significance Short-rib thoracic dysplasia 11 with or without polydactyly 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 15 of the WDR34 protein (p.Ser15Asn). This variant is present in population databases (rs752793349, gnomAD 0.04%). 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: 1681269). 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. 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 RCV004047341 SCV004859656 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.44G>A (p.S15N) alteration is located in exon 1 (coding exon 1) of the WDR34 gene. This alteration results from a G to A substitution at nucleotide position 44, causing the serine (S) at amino acid position 15 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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