ClinVar Miner

Submissions for variant NM_014017.4(LAMTOR2):c.47C>T (p.Thr16Ile)

gnomAD frequency: 0.00001  dbSNP: rs763874836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296641 SCV001485612 uncertain significance not provided 2024-10-20 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 16 of the LAMTOR2 protein (p.Thr16Ile). This variant is present in population databases (rs763874836, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with LAMTOR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1000497). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004036040 SCV003714162 uncertain significance not specified 2022-11-03 criteria provided, single submitter clinical testing The c.47C>T (p.T16I) alteration is located in exon 1 (coding exon 1) of the LAMTOR2 gene. This alteration results from a C to T substitution at nucleotide position 47, causing the threonine (T) at amino acid position 16 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132379 SCV003816426 uncertain significance Primary immunodeficiency syndrome due to p14 deficiency 2020-02-11 criteria provided, single submitter clinical testing

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