ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.1078C>T (p.His360Tyr) (rs763554006)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000411951 SCV000626663 uncertain significance Glycogen storage disease type III 2019-04-22 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 360 of the AGL protein (p.His360Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs763554006, ExAC 0.006%). This variant has been reported in individuals affected with glycogen storage disease III (PMID:25388549, 23430490, 27460348). ClinVar contains an entry for this variant (Variation ID: 371296). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092051 SCV001248395 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV000411951 SCV001424354 pathogenic Glycogen storage disease type III criteria provided, single submitter clinical testing
Centre for Human Genetics RCV000411951 SCV001482497 pathogenic Glycogen storage disease type III 2017-10-05 criteria provided, single submitter clinical testing disease causing
Counsyl RCV000411951 SCV000486844 likely pathogenic Glycogen storage disease type III 2018-03-30 no assertion criteria provided clinical testing

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