Submissions for variant NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)

gnomAD frequency: 0.00011  dbSNP: rs202140413

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000415416	SCV000492620	uncertain significance	Cerebellar ataxia; Hearing impairment; Gait disturbance; Sensory neuropathy; Poor speech	2015-04-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000593932	SCV000703206	uncertain significance	not provided	2018-06-05	criteria provided, single submitter	clinical testing
Invitae	RCV000648163	SCV000769977	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2022-08-16	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 620 of the POMT1 protein (p.Arg620Gln). This variant is present in population databases (rs202140413, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 373970). 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.
Athena Diagnostics Inc	RCV000593932	SCV001145181	uncertain significance	not provided	2019-06-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000593932	SCV001155778	uncertain significance	not provided	2018-12-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168475	SCV001331069	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2K	2017-10-29	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000593932	SCV001992032	uncertain significance	not provided	2022-10-21	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; This variant is associated with the following publications: (PMID: 30564623, 28182637)
Mayo Clinic Laboratories, Mayo Clinic	RCV000593932	SCV002541024	uncertain significance	not provided	2021-11-26	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000593932	SCV003809696	uncertain significance	not provided	2023-10-17	criteria provided, single submitter	clinical testing