ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) (rs199705951)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000881459 SCV001024637 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002008 SCV001159824 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2018-08-09 criteria provided, single submitter clinical testing The SBF1 c.2393A>G; p.Asn798Ser variant (rs199705951), 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 0.7% (179/23900 alleles, including a single homozygote) in the Genome Aggregation Database. The asparagine at codon 798 is highly conserved, but 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.Asn798Ser variant is uncertain at this time.

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