ClinVar Miner

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

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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 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.

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