ClinVar Miner

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

dbSNP: rs373534319
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Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001508025 SCV002203269 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1836 of the SBF1 protein (p.Ala1836Gly). This variant is present in population databases (rs373534319, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SBF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 811310). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003953420 SCV004778629 uncertain significance SBF1-related disorder 2024-02-29 no assertion criteria provided clinical testing The SBF1 c.5507C>G variant is predicted to result in the amino acid substitution p.Ala1836Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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