ClinVar Miner

Submissions for variant NM_002103.5(GYS1):c.101G>T (p.Trp34Leu) (rs1131691586)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493476 SCV000582429 uncertain significance not provided 2017-12-06 criteria provided, single submitter clinical testing The W34L variant in the GYS1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The W34L variant is not observed in large population cohorts (Lek et al., 2016). The W34L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret W34L as a variant of uncertain significance.
GenomeConnect, ClinGen RCV001249317 SCV001423281 not provided Glycogen storage disease 0, muscle no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 12-11-2017 by Lab or GTR ID 26957. 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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