ClinVar Miner

Submissions for variant NM_014017.4(LAMTOR2):c.*23C>A

gnomAD frequency: 0.00001  dbSNP: rs1306489180
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002512640 SCV003523905 uncertain significance not provided 2022-10-09 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this variant affects LAMTOR2 function (PMID: 17195838). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 1239). This variant has been observed in individual(s) with immunodeficiency (PMID: 17195838). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant occurs in a non-coding region of the LAMTOR2 gene. It does not change the encoded amino acid sequence of the LAMTOR2 protein.
OMIM RCV000001298 SCV000021448 pathogenic Primary immunodeficiency syndrome due to p14 deficiency 2007-01-01 no assertion criteria provided literature only

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