ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.2093_2104del (rs1554763017)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531303 SCV000652031 pathogenic Charcot-Marie-Tooth disease type 2P 2019-10-03 criteria provided, single submitter clinical testing This variant, c.2093_2104del, results in the deletion of 4 amino acid(s) of the LRSAM1 protein (p.Gln698_Gln701del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal dominant Charcot-Marie-Tooth disease in families (PMID: 30996334). ClinVar contains an entry for this variant (Variation ID: 472799). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Biochimie - Maladies Neurologiques Hereditaires,Hospices Civils de Lyon RCV000531303 SCV000839589 pathogenic Charcot-Marie-Tooth disease type 2P 2018-06-29 no assertion criteria provided clinical testing

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