ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1229A>T (p.Asp410Val)

gnomAD frequency: 0.00001  dbSNP: rs886043224
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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) RCV000725733 SCV000339008 uncertain significance not provided 2016-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000725733 SCV000536197 uncertain significance not provided 2021-07-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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: 27535533)
CeGaT Center for Human Genetics Tuebingen RCV000725733 SCV001149283 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001312388 SCV001502841 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 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 410 of the POMT2 protein (p.Asp410Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). 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: 285824). 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: "Tolerated"; 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.
Revvity Omics, Revvity RCV000725733 SCV003809789 uncertain significance not provided 2021-05-07 criteria provided, single submitter clinical testing

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