Submissions for variant NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000493066	SCV000582188	likely pathogenic	not provided	2015-09-18	criteria provided, single submitter	clinical testing	The D206N variant in the ZBTB20 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The D206N variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function, the D206N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. The D206N variant is a strong candidate for a pathogenic variant. We interpret D206N as a likely pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003403139	SCV004122739	uncertain significance	not specified	2023-10-11	criteria provided, single submitter	clinical testing	Variant summary: ZBTB20 c.616G>A (p.Asp206Asn) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 250564 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.616G>A in individuals affected with Intellectual Disability-Cataracts Pinnae-Myopathy Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as uncertain significance.

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