ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) (rs202149945)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762081 SCV000892337 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000629 SCV001157641 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2018-11-20 criteria provided, single submitter clinical testing The SBF1 c.5471G>A; p.Arg1824His variant (rs202149945), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an allele frequency of 0.054% (69/128,564 alleles, including a single homozygote) in the Genome Aggregation Database. The arginine at codon 1824 is moderately conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg1824His variant is uncertain at this time.

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