ClinVar Miner

Submissions for variant NM_213599.3(ANO5):c.424A>T (p.Thr142Ser)

gnomAD frequency: 0.00001  dbSNP: rs757367942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000358512 SCV000344042 uncertain significance not provided 2016-08-15 criteria provided, single submitter clinical testing
Invitae RCV000695739 SCV000824256 uncertain significance Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 2023-06-22 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ANO5 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 289652). This variant has not been reported in the literature in individuals affected with ANO5-related conditions. This variant is present in population databases (rs757367942, gnomAD 0.004%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 142 of the ANO5 protein (p.Thr142Ser).
Fulgent Genetics, Fulgent Genetics RCV002487269 SCV002787903 uncertain significance Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3 2021-08-16 criteria provided, single submitter clinical testing

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