ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu)

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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 RCV001289905 SCV001477905 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2020-04-21 criteria provided, single submitter clinical testing The SBF1 c.3251C>T; p.Pro1084Leu variant (rs749516637), 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 0.01% (28/278862 alleles) in the Genome Aggregation Database. The proline at codon 1084 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Pro1084Leu variant is uncertain at this time.

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