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 2020-01-09 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 but is reported in ClinVar (Variation ID: 709964). 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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