ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.1215dup (p.Phe406fs)

dbSNP: rs1587181981
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine RCV000787336 SCV000864242 likely pathogenic Sengers syndrome 2016-04-07 no assertion criteria provided clinical testing The c.1215dupG (p.Phe406Valfs*4) variant in AGK has been observed in a patient who died at the age of 9 months without a definitive diagnosis. Reverse genetics was used for diagnosis with whole exome sequencing and Sengers syndrome was consistent with the clinical findings. At the age of 3 months, physical examination showed that she had hypotonia, resistant vomiting attacks and failure to thrive. There was parental consanguinity and autosomal recessive inheritance pattern matching for this variant. The c.1215dupG (p.Phe406Valfs*4) variant in AGK meets our criteria to be classified as likely pathogenic.

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