Submissions for variant NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)

gnomAD frequency: 0.00003  dbSNP: rs138496419

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001931877	SCV002123727	uncertain significance	Ehlers-Danlos syndrome progeroid type	2022-06-11	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 113 of the B4GALT7 protein (p.Pro113Ser). This variant is present in population databases (rs138496419, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with B4GALT7-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276914	SCV002565295	uncertain significance	Ehlers-Danlos syndrome	2020-01-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003146277	SCV003829727	uncertain significance	Ehlers-Danlos syndrome, spondylodysplastic type, 1	2022-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003883714	SCV004698800	uncertain significance	not provided	2024-02-01	criteria provided, single submitter	clinical testing	B4GALT7: PM2