Submissions for variant NM_032229.3(SLITRK6):c.1318T>G (p.Leu440Val)

gnomAD frequency: 0.00025  dbSNP: rs200767869

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000890975	SCV001034760	benign	not provided	2024-09-05	criteria provided, single submitter	clinical testing
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	RCV001375463	SCV001572136	uncertain significance	Hearing impairment	2021-04-12	criteria provided, single submitter	clinical testing	PM2_Supporting, PP3_Supporting
GeneDx	RCV000890975	SCV002031005	uncertain significance	not provided	2021-12-02	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV002539391	SCV003551210	uncertain significance	Inborn genetic diseases	2021-09-17	criteria provided, single submitter	clinical testing	The c.1318T>G (p.L440V) alteration is located in exon 2 (coding exon 1) of the SLITRK6 gene. This alteration results from a T to G substitution at nucleotide position 1318, causing the leucine (L) at amino acid position 440 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.