ClinVar Miner

Submissions for variant NM_003289.4(TPM2):c.144G>T (p.Lys48Asn)

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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 RCV003388779 SCV004100603 uncertain significance Congenital myopathy 23 criteria provided, single submitter clinical testing The missense variant p.K48N in TPM2 (NM_003289.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.K48N variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between lysine and asparagine. The p.K48N missense variant is predicted to be damaging by both SIFT and PolyPhen2. The lysine residue at codon 48 of TPM2 is conserved in all mammalian species. The nucleotide c.144 in TPM2 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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