ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) (rs370463792)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904393 SCV001048907 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001997 SCV001159812 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2018-07-31 criteria provided, single submitter clinical testing The SBF1 c.2785G>A; p.Val929Ile variant (rs370463792), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the African population with an overall allele frequency of 0.34% (81/23554 alleles) in the Genome Aggregation Database. The valine at codon 929 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the c.2785G>A; p.Val929Ile variant is uncertain at this time.

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