ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.1336T>C (p.Phe446Leu)

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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 RCV002616273 SCV003506725 uncertain significance Nemaline myopathy 10 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 446 of the LMOD3 protein (p.Phe446Leu). This variant is present in population databases (rs200078125, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with LMOD3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002623704 SCV003536170 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.1336T>C (p.F446L) alteration is located in exon 2 (coding exon 2) of the LMOD3 gene. This alteration results from a T to C substitution at nucleotide position 1336, causing the phenylalanine (F) at amino acid position 446 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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