Submissions for variant NM_001005373.4(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup)

dbSNP: rs1564287871

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000709699	SCV005784448	likely pathogenic	Charcot-Marie-Tooth disease axonal type 2P	2024-09-05	criteria provided, single submitter	clinical testing	This variant, c.2104_2133dup, results in the insertion of 10 amino acid(s) of the LRSAM1 protein (p.Pro702_Gln711dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with clinical features of autosomal dominant Charcot-Marie-Tooth disease (PMID: 30996334; internal data). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 585203). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon	RCV000709699	SCV000839590	pathogenic	Charcot-Marie-Tooth disease axonal type 2P	2018-06-29	no assertion criteria provided	clinical testing