ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1442G>A (p.Ser481Asn)

gnomAD frequency: 0.00012  dbSNP: rs144230655
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531143 SCV000651527 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 481 of the LAMB2 protein (p.Ser481Asn). This variant is present in population databases (rs144230655, gnomAD 0.02%). 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: 472470). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
CeGaT Center for Human Genetics Tuebingen RCV000762116 SCV000892374 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148465 SCV001309364 uncertain significance Pierson syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001148466 SCV001309365 uncertain significance LAMB2-related infantile-onset nephrotic syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV000531143 SCV002783375 uncertain significance Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2022-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530191 SCV003563963 uncertain significance Inborn genetic diseases 2022-05-30 criteria provided, single submitter clinical testing The c.1442G>A (p.S481N) alteration is located in exon 11 (coding exon 11) of the LAMB2 gene. This alteration results from a G to A substitution at nucleotide position 1442, causing the serine (S) at amino acid position 481 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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