ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) (rs750958357)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000498336 SCV000615015 uncertain significance not specified 2017-02-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513369 SCV000608579 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Claritas Genomics RCV000449588 SCV000537838 uncertain significance Peripheral neuropathy 2016-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000513369 SCV000589401 uncertain significance not provided 2018-09-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SBF2 gene. The c.5014_5016delAAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 40/66726 (0.06%) alleles from individuals of European background (Lek et al., 2016). The c.5014_5016delAAA variant results in an in-frame deletion of a single Lysine residue, denoted p.K1672del. This variant occurs at a position that is conserved through mammals. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000626094 SCV000746719 uncertain significance Charcot-Marie-Tooth disease, type 4B2 2017-12-18 criteria provided, single submitter clinical testing
Invitae RCV000540860 SCV000657971 uncertain significance Charcot-Marie-Tooth disease type 4 2018-12-27 criteria provided, single submitter clinical testing This variant, c.5014_5016delAAA, results in the deletion of 1 amino acid of the SBF2 protein (p.Lys1672del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750958357, ExAC 0.06%) but has not been reported in the literature in individuals with an SBF2-related disease. ClinVar contains an entry for this variant (Variation ID: 397621). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.

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