ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1796G>A (p.Arg599Gln)

gnomAD frequency: 0.00001  dbSNP: rs367709136
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325563 SCV000334933 uncertain significance not provided 2015-09-03 criteria provided, single submitter clinical testing
Invitae RCV000800012 SCV000939709 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2022-07-06 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 621 of the POMT1 protein (p.Arg621Gln). This variant is present in population databases (rs367709136, 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: 283065). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV000325563 SCV003809685 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278734 SCV003954819 uncertain significance Inborn genetic diseases 2023-06-06 criteria provided, single submitter clinical testing The c.1862G>A (p.R621Q) alteration is located in exon 18 (coding exon 17) of the POMT1 gene. This alteration results from a G to A substitution at nucleotide position 1862, causing the arginine (R) at amino acid position 621 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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