ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.734G>T (p.Cys245Phe) (rs587781869)

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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 RCV000223331 SCV000278186 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
GeneDx RCV000681038 SCV000808491 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing This variant is denoted NF1 c.734G>T at the cDNA level, p.Cys245Phe (C245F) at the protein level, and results in the change of a Cysteine to a Phenylalanine (TGT>TTT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. NF1 Cys245Phe was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Cysteine and Phenylalanine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. NF1 Cys245Phe occurs at a position that is conserved in mammals and is not located in a known functional domain. In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether NF1 Cys245Phe is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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