ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.5460A>T (p.Gln1820His) (rs151046636)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130231 SCV000185071 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-07 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
GeneDx RCV000492817 SCV000582308 uncertain significance not provided 2017-05-12 criteria provided, single submitter clinical testing The Q1820H variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Q1820H 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. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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