ClinVar Miner

Submissions for variant NM_181503.2(EXOSC8):c.815G>C (p.Ser272Thr) (rs36027220)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418794 SCV000511780 likely pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000519395 SCV000617862 uncertain significance not specified 2017-07-05 criteria provided, single submitter clinical testing The S272T variant in the EXOSC8 gene has been reported previously in the homozygous state in two families with a progressive infantile neurodevelopmental disorder (Boczonadi et al., 2014). The S272T variant is observed in 334/56988 (0.6%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The S272T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S272T as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000144941 SCV000840340 not provided Pontocerebellar hypoplasia, type 1c no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM RCV000144941 SCV000191958 pathogenic Pontocerebellar hypoplasia, type 1c 2014-07-03 no assertion criteria provided literature only

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