ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln) (rs202140413)

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Total submissions: 6
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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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000593932 SCV000703206 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV000648163 SCV000769977 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-07-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 620 of the POMT1 protein (p.Arg620Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs202140413, ExAC 0.04%). This variant has not been reported in the literature in individuals with POMT1-related disease. ClinVar contains an entry for this variant (Variation ID: 373970). Algorithms developed to predict the effect of missense changes on protein structure and function 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 Praxis fuer Humangenetik Tuebingen RCV000593932 SCV001155778 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001168475 SCV001331069 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 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.

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