Submissions for variant NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys)

gnomAD frequency: 0.00038  dbSNP: rs150466838

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000385924	SCV000364315	uncertain significance	Spondyloepiphyseal dysplasia congenita	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272819	SCV000364316	uncertain significance	Skeletal dysplasia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000327919	SCV000364317	uncertain significance	Spondyloepiphyseal dysplasia with congenital joint dislocations	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382557	SCV000364318	uncertain significance	Larsen syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001564255	SCV001787391	likely benign	not provided	2020-01-18	criteria provided, single submitter	clinical testing	In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV000327919	SCV002405847	benign	Spondyloepiphyseal dysplasia with congenital joint dislocations	2025-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002520628	SCV003612271	uncertain significance	Inborn genetic diseases	2022-12-01	criteria provided, single submitter	clinical testing	The c.1003G>A (p.E335K) alteration is located in exon 3 (coding exon 2) of the CHST3 gene. This alteration results from a G to A substitution at nucleotide position 1003, causing the glutamic acid (E) at amino acid position 335 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.