ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) (rs201754030)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520260 SCV000616905 likely pathogenic not provided 2018-08-31 criteria provided, single submitter clinical testing The Q307X variant in the TSFM gene has been reported previously using alternative nomenclature (Q286X) in the compound heterozygous state in two siblings with infantile-onset mitochondrial cardiomyopathy progressing to juvenile-onset Leigh syndrome, neuropathy, and optic atrophy and in another unrelated individual with juvenile-onset optic atrophy, peripheral neuropathy, and ataxia (Ahola et al., 2014). This variant is predicted to cause a premature stop codon, resulting in protein truncation of the last 40 amnio acids. The Q307X variant is observed in 337/24564 (1.4%) alleles from individuals of Finnish background in the large population cohorts and and no individuals were reported to be homozygous (Lek et al., 2016). We interpret Q307X as a likely pathogenic variant.
Invitae RCV000520260 SCV001014941 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000520260 SCV001250241 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
OMIM RCV000143783 SCV000188678 pathogenic Combined oxidative phosphorylation deficiency 3 2014-08-19 no assertion criteria provided literature only
Blueprint Genetics RCV000157550 SCV000207296 pathogenic Primary dilated cardiomyopathy 2014-11-26 no assertion criteria provided clinical testing
Reproductive Health Research and Development,BGI Genomics RCV000143783 SCV001142433 pathogenic Combined oxidative phosphorylation deficiency 3 2020-01-06 no assertion criteria provided curation NM_001172696.1:c.919C>T in the TSFM gene has an allele frequency of 0.014 in European(Finnish) subpopulation in the gnomAD database.This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was detected in individual with autosomal recessive infantile-onset mitochondrial cardiomyopathy, compound heterozygous with c.944G>A (PMID: 25037205). Co-segregation evidence was observed in a pedigree, two patients were affected and one sibling unaffected (PMID: 25037205). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP criteria applied: PVS1; PM3; PP1.

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