ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala)

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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 RCV001001087 SCV001158222 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2019-03-04 criteria provided, single submitter clinical testing The SBF1 c.1069A>G; p.Thr357Ala variant (rs746439204), to our knowledge, is not described in the medical literature or in gene-specific databases, and is observed on only 3 alleles in the Genome Aggregation Database. The threonine at codon 357 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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