ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.2072G>T (p.Gly691Val)

gnomAD frequency: 0.00003  dbSNP: rs758678348
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000283624 SCV000333455 uncertain significance not provided 2015-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859556 SCV002248060 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2022-07-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 691 of the POMT2 protein (p.Gly691Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with POMT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 282171). 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. 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 RCV000283624 SCV004236462 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021100 SCV005008724 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.2072G>T (p.G691V) alteration is located in exon 20 (coding exon 20) of the POMT2 gene. This alteration results from a G to T substitution at nucleotide position 2072, causing the glycine (G) at amino acid position 691 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000283624 SCV005870586 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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