ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.155A>G (rs143777403)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000178421 SCV000612355 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723959 SCV000891959 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723959 SCV000230496 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000178421 SCV000516949 likely benign not specified 2017-11-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000178421 SCV000923747 uncertain significance not specified 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000546305 SCV000645894 uncertain significance Gnathodiaphyseal dysplasia; Limb-girdle muscular dystrophy, type 2L 2018-04-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 52 of the ANO5 protein (p.Asn52Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs143777403, ExAC 0.2%). This variant has been reported as compound heterozygous in individuals and families affected with limb-girdle muscular dystrophy and non-dysferlin Miyoshi myopathy (PMID: 22980763, 23606453, 23041008, 5898921, 25326637). ClinVar contains an entry for this variant (Variation ID: 197403). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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