ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.2468A>G (p.Asn823Ser)

gnomAD frequency: 0.00017  dbSNP: rs140325029
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764818 SCV001989288 uncertain significance not provided 2019-04-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001764818 SCV002278556 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 823 of the LAMC3 protein (p.Asn823Ser). This variant is present in population databases (rs140325029, gnomAD 0.03%). 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: 1303702). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002538762 SCV003701524 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.2468A>G (p.N823S) alteration is located in exon 14 (coding exon 14) of the LAMC3 gene. This alteration results from a A to G substitution at nucleotide position 2468, causing the asparagine (N) at amino acid position 823 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV001764818 SCV004156555 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing LAMC3: BP4, BS2

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