ClinVar Miner

Submissions for variant NM_153033.4(KCTD7):c.76G>T (p.Asp26Tyr) (rs371919994)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767107 SCV000241630 uncertain significance not provided 2015-11-20 criteria provided, single submitter clinical testing The D26Y variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The D26Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether the D26Y variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY,PME-EPI panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000355846 SCV000469803 uncertain significance Progressive myoclonic epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000188027 SCV000613899 uncertain significance not specified 2016-11-07 criteria provided, single submitter clinical testing
Invitae RCV000706787 SCV000835857 uncertain significance Epilepsy, progressive myoclonic 3 2018-08-11 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 26 of the KCTD7 protein (p.Asp26Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is present in population databases (rs371919994, ExAC 0.05%). This variant has not been reported in the literature in individuals with KCTD7-related disease. ClinVar contains an entry for this variant (Variation ID: 206019). 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: "Benign"; Align-GVGD: "Class C0"). 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 RCV000720823 SCV000851707 uncertain significance Seizures 2017-05-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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