ClinVar Miner

Submissions for variant NM_004614.5(TK2):c.635T>A (p.Ile212Asn)

dbSNP: rs137854430
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003556012 SCV004297008 pathogenic not provided 2023-03-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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) performed at Invitae indicates that this missense variant is expected to disrupt TK2 protein function. ClinVar contains an entry for this variant (Variation ID: 12709). This missense change has been observed in individuals with mitochondrial DNA depletion syndrome (PMID: 11687801, 16908738, 29602790). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 212 of the TK2 protein (p.Ile212Asn).
OMIM RCV000013546 SCV000033793 pathogenic Mitochondrial DNA depletion syndrome, myopathic form 2012-02-28 no assertion criteria provided literature only

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