ClinVar Miner

Submissions for variant NM_001301130.2(POLR2F):c.294-2507del (rs1064796049)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483964 SCV000572433 pathogenic not provided 2016-12-06 criteria provided, single submitter clinical testing The c.141delG variant in the SOX10 gene has has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.141delG variant causes a frameshift starting with codon Proline 48, changes this amino acid to a Glutamine residue, and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Pro48GlnfsX61. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.141delG 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. We interpret c.141delG as a pathogenic variant
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660273 SCV000782298 likely pathogenic Waardenburg syndrome type 4C 2016-11-01 criteria provided, single submitter clinical testing

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