ClinVar Miner

Submissions for variant NM_001127666.2(GSN):c.520G>A (p.Asp174Asn) (rs121909715)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489240 SCV000576944 pathogenic not provided 2017-04-13 criteria provided, single submitter clinical testing The D214N variant in the GSN gene has been reported multiple times, as D187N due to the use of alternative nomenclature, in association with familial amyloidosis (Maury et al., 1990; Levy et al., 1990; Hiltunen et al., 1991; Gorevic et al., 1991; de la Chapelle et al., 1992). The D214N variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D214N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret D214N as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000017564 SCV000893788 pathogenic Meretoja syndrome 2018-10-31 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000017564 SCV001149797 pathogenic Meretoja syndrome 2018-02-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000489240 SCV001246225 pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000017564 SCV000037835 pathogenic Meretoja syndrome 2002-01-01 no assertion criteria provided literature only

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