ClinVar Miner

Submissions for variant NM_198271.5(LMOD3):c.332G>A (p.Arg111His)

gnomAD frequency: 0.00004  dbSNP: rs370401036
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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 RCV000556478 SCV000655502 uncertain significance Nemaline myopathy 10 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 111 of the LMOD3 protein (p.Arg111His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LMOD3-related conditions. ClinVar contains an entry for this variant (Variation ID: 475318). 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 histidine 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.
Revvity Omics, Revvity RCV000556478 SCV003817010 uncertain significance Nemaline myopathy 10 2022-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343922 SCV004061197 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.332G>A (p.R111H) alteration is located in exon 2 (coding exon 2) of the LMOD3 gene. This alteration results from a G to A substitution at nucleotide position 332, causing the arginine (R) at amino acid position 111 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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