ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) (rs104894520)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991836 SCV001143624 pathogenic not provided 2018-11-07 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282336 chr). Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. Very strong co-segregation with disease in affected and unaffected individuals, but from a single family.
OMIM RCV000006430 SCV000026613 pathogenic Charcot-Marie-Tooth disease, type 1C 2003-01-14 no assertion criteria provided literature only
GeneReviews RCV000006430 SCV000055878 pathologic Charcot-Marie-Tooth disease, type 1C 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.

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