ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) (rs373534319)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001088 SCV001158223 uncertain significance Charcot-Marie-Tooth disease, type 4B3 2019-03-04 criteria provided, single submitter clinical testing The SBF1 c.5507C>G; p.Ala1836Gly variant (rs373534319), to our knowledge, is not described in the medical literature or in gene-specific databases. It is observed in the non-Finnish European population at an overall frequency of 0.025% (32/128628 alleles) in the Genome Aggregation Database. The alanine at codon 1836 is moderately conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. However, due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.
Mayo Clinic Laboratories, Mayo Clinic RCV001508025 SCV001713919 uncertain significance not provided 2020-12-22 criteria provided, single submitter clinical testing

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