ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr)

dbSNP: rs376984481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001374092 SCV001570866 likely benign Nemaline myopathy 2 2024-01-02 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004815490 SCV005438699 uncertain significance Arthrogryposis multiplex congenita 6 criteria provided, single submitter clinical testing The observed missense variant c.25390C>Ap.Pro8464Thr in the NEB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.005% in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance/Likely Benign. However, no details are available for independent assessment. The amino acid Pro at position 8464 is changed to a Thr changing protein sequence and it might alter its composition and physico- chemical properties. Multiple lines of computational evidence SIFT - Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. The variant has low depth and hence Sanger sequencing is recommended to confirm the variant.
Natera, Inc. RCV001374092 SCV002083929 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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