ClinVar Miner

Submissions for variant NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) (rs36027220)

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Total submissions: 5
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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.
Invitae RCV000418794 SCV001119618 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
OMIM RCV000144941 SCV000191958 pathogenic Pontocerebellar hypoplasia, type 1c 2014-07-03 no assertion criteria provided literature only
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.

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