ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.383T>C (p.Leu128Pro) (rs387907037)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235466 SCV000293539 likely pathogenic not provided 2017-05-12 criteria provided, single submitter clinical testing The L128P variant has been previously reported in association with CMT and focal segmental glomerulosclerosis (Rodriguez et al., 2013; Boyer et al., 2011). It was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L128P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution alters a conserved position in the DID domain, where other pathogenic variants associated with CMT-FSGS have been reported (Stenson et al., 2014). In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
OMIM RCV000023852 SCV000045143 pathogenic Charcot-Marie-Tooth disease, dominant intermediate E 2011-12-22 no assertion criteria provided literature only

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