ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1342C>T (p.His448Tyr) (rs1131691257)

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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 RCV000562406 SCV000663231 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-15 criteria provided, single submitter clinical testing Insufficient evidence
GeneDx RCV000494537 SCV000581712 not provided not provided no assertion provided clinical testing The c.1340_1342delTTCinsCTT 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). The Leucine at residue 447 is conserved across species, and the Histidine at residue 448 is conserved in mammals. The variant Proline at residue 447 is a semi-conservative amino acid substitution, and the variant Tyrosine at residue 448 is a non-conservative substitution. 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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