Submissions for variant NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002559632	SCV002966606	uncertain significance	Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6	2022-01-02	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 915450). This missense change has been observed in individual(s) with Aicardi-Goutieres syndrome (PMID: 32996714). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 907 of the ADAR protein (p.Asn907Ser).
Institute of Medical Molecular Genetics, University of Zurich	RCV001255869	SCV001297979	pathogenic	Aicardi-Goutieres syndrome 6	2019-08-01	no assertion criteria provided	research

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