ClinVar Miner

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

gnomAD frequency: 0.00125  dbSNP: 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 2023-12-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001997 SCV001159812 uncertain significance Charcot-Marie-Tooth disease type 4B3 2021-09-27 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; however, this variant is listed in the ClinVar database (Variation ID: 729706). This variant is found in the African population with an overall allele frequency of 0.35% (83/23700 alleles) in the Genome Aggregation Database. The valine at codon 929 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.107). Based on the available information, the clinical significance of this variant is uncertain.

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