ClinVar Miner

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

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Total submissions: 4
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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.
Invitae RCV000006430 SCV001201193 likely pathogenic Charcot-Marie-Tooth disease, type 1C 2019-02-08 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 115 of the LITAF protein (p.Thr115Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with Charcot-Marie-Tooth disease (PMID: 12525712). ClinVar contains an entry for this variant (Variation ID: 6058). This variant has been reported to affect LITAF protein function (PMID: 23576546, 25058650). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
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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