Submissions for variant NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)

gnomAD frequency: 0.00033  dbSNP: rs545973022

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659457	SCV000781272	likely pathogenic	Ehlers-Danlos syndrome, classic type	2016-11-01	criteria provided, single submitter	clinical testing
Invitae	RCV002235655	SCV000819694	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001766433	SCV002009029	uncertain significance	not provided	2023-04-06	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Symoens et al., 2012; HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Mendelics	RCV002249390	SCV002518139	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001766433	SCV004225176	uncertain significance	not provided	2023-06-27	criteria provided, single submitter	clinical testing	BS1
GenomeConnect, ClinGen	RCV000659457	SCV002075075	not provided	Ehlers-Danlos syndrome, classic type		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 04-19-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.