Submissions for variant NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)

gnomAD frequency: 0.00137  dbSNP: rs115534729

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000309842	SCV000332007	likely benign	not specified	2015-07-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000657157	SCV000618868	uncertain significance	not provided	2022-06-15	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
Athena Diagnostics Inc	RCV000657157	SCV000844249	likely benign	not provided	2019-06-13	criteria provided, single submitter	clinical testing
Invitae	RCV001085639	SCV001014767	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-08	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000657157	SCV001714203	uncertain significance	not provided	2020-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002519087	SCV003755017	uncertain significance	Inborn genetic diseases	2021-11-12	criteria provided, single submitter	clinical testing	The c.20075C>T (p.S6692L) alteration is located in exon 109 (coding exon 108) of the SYNE1 gene. This alteration results from a C to T substitution at nucleotide position 20075, causing the serine (S) at amino acid position 6692 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000657157	SCV003826315	uncertain significance	not provided	2021-09-08	criteria provided, single submitter	clinical testing