ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.1241G>A (p.Arg414His)

gnomAD frequency: 0.00005  dbSNP: rs372564761
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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 RCV001924221 SCV002199480 uncertain significance not provided 2022-08-31 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 414 of the LAMC3 protein (p.Arg414His). 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 LAMC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1425035). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; 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.
Fulgent Genetics, Fulgent Genetics RCV002503628 SCV002775993 uncertain significance Occipital pachygyria and polymicrogyria 2022-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002560482 SCV003543824 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.1241G>A (p.R414H) alteration is located in exon 6 (coding exon 6) of the LAMC3 gene. This alteration results from a G to A substitution at nucleotide position 1241, causing the arginine (R) at amino acid position 414 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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