ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala)

gnomAD frequency: 0.00001  dbSNP: rs746447569
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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 RCV000706596 SCV000835656 uncertain significance Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 2018-04-05 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DCDC2-related disease. This variant is present in population databases (rs746447569, ExAC 0.001%). This sequence change replaces glycine with alanine at codon 310 of the DCDC2 protein (p.Gly310Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine.
GeneDx RCV001805826 SCV002050540 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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