ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) (rs377121179)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081473 SCV000260583 likely benign Charcot-Marie-Tooth disease type 2E 2019-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000235949 SCV000294181 uncertain significance not provided 2019-01-18 criteria provided, single submitter clinical testing The Q537R variant has been reported previously in an individual with congenital hypotonia; however, this individual was found to have two truncating variants on opposite alleles of the IGHMBP2 gene (Gonzaga-Jauregui et al., 2015). The Q537R variant was not observed with any significant frequency in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project or in the 1000 Genomes Project. The Q537R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000764772 SCV000895910 uncertain significance Charcot-Marie-Tooth disease, demyelinating, type 1f; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G 2018-10-31 criteria provided, single submitter clinical testing

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