Submissions for variant NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)

gnomAD frequency: 0.00004  dbSNP: rs199534074

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000307681	SCV000343975	uncertain significance	not provided	2016-07-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000394019	SCV000357978	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306770	SCV000357979	uncertain significance	Congenital Muscular Dystrophy, alpha-dystroglycan related	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000822620	SCV000963430	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2022-07-25	criteria provided, single submitter	clinical testing	This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 643 of the POMGNT1 protein (p.Phe643Val). This variant is present in population databases (rs199534074, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289590). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POMGNT1 protein function. 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-Nilou Lab	RCV001579239	SCV001806698	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001579240	SCV001806699	uncertain significance	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001579241	SCV001806700	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2O	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001579242	SCV001806701	uncertain significance	Retinitis pigmentosa 76	2021-07-22	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001275227	SCV001460151	uncertain significance	Muscle eye brain disease	2020-09-16	no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001824723	SCV002075016	not provided	Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76		no assertion provided	phenotyping only	Variant interpreted as Uncertain significance and reported on 12-03-2020 by Lab or GTR ID 500188. 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.