ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24389G>C (p.Ser8130Thr)

dbSNP: rs2152954710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823485 SCV002072954 uncertain significance Nemaline myopathy 2 criteria provided, single submitter clinical testing The missense variant p.S8165T in NEB (NM_001271208.2) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.S8165T variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The observed number of missense variations in the NEB gene in the gnomAD database are higher than expected and hence there is a possibility that missense variants may not be disease causing unless corroborated by functional studies. The p.S8165T missense variant is predicted to be damaging by both SIFT and PolyPhen2. The serine residue at codon 8165 of NEB is conserved in all mammalian species. The nucleotide c.24494 in NEB is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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