ClinVar Miner

Submissions for variant NM_033500.2(HK1):c.1334C>T (p.Thr445Met) (rs1057517928)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413860 SCV000491089 likely pathogenic not provided 2016-05-17 criteria provided, single submitter clinical testing The T457M variant in the HK1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T457M variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T457M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. The T457M variant is a strong candidate for a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763213 SCV000893839 likely pathogenic Neuropathy, hereditary motor and sensory, Russe type; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000850129 SCV000992293 pathogenic NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES 2019-08-22 no assertion criteria provided literature only

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