ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.5379C>G (p.Ile1793Met)

gnomAD frequency: 0.00019  dbSNP: rs11550620
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513389 SCV000609103 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000553199 SCV000651572 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1793 of the LAMB2 protein (p.Ile1793Met). This variant is present in population databases (rs11550620, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with LAMB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 444602). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV001335016 SCV001528045 uncertain significance LAMB2-related infantile-onset nephrotic syndrome 2018-12-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV000553199 SCV002814510 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002524965 SCV003701359 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.5379C>G (p.I1793M) alteration is located in exon 32 (coding exon 32) of the LAMB2 gene. This alteration results from a C to G substitution at nucleotide position 5379, causing the isoleucine (I) at amino acid position 1793 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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