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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