ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) (rs370182117)

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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 RCV001002004 SCV001159820 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2018-08-05 criteria provided, single submitter clinical testing The SBF1 c.4639C>T; p.Arg1547Trp variant (rs370182117), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.03% (75/276800 alleles) in the Genome Aggregation Database. The arginine at codon 1547 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Arg1547Trp variant is uncertain at this time.

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