ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287725 SCV001474442 uncertain significance Charcot-Marie-Tooth disease, type 4D 2019-09-03 criteria provided, single submitter clinical testing The NDRG1 c.583C>T; p.Leu195Phe variant (rs1295024326), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.0008 percent (identified on 2 out of 251,312 chromosomes). The leucine at position 195 is highly conserved and computational analyses of the effects of the p.Leu195Phe variant on protein structure and function is conflicting (SIFT: tolerated, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Leu195Phe variant with certainty.

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