ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) (rs200718883)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000905841 SCV001050441 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002009 SCV001159825 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2018-07-23 criteria provided, single submitter clinical testing The SBF1 c.3940A>G; p.Ser1314Gly variant (rs200718883), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the Finnish European population with an overall allele frequency of 0.55% (93/16894 alleles, including 1 homozygote) in the Genome Aggregation Database. The serine at codon 1314 is weakly conserved, it occurs as a glycine in several vertebrate species, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Ser1314Gly variant is uncertain at this time.

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