ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.3422C>T (p.Thr1141Met)

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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 RCV002570596 SCV003278276 uncertain significance not provided 2024-02-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1141 of the LAMB1 protein (p.Thr1141Met). This variant is present in population databases (rs142551567, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with LAMB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 977874). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002570595 SCV003692971 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.3422C>T (p.T1141M) alteration is located in exon 25 (coding exon 24) of the LAMB1 gene. This alteration results from a C to T substitution at nucleotide position 3422, causing the threonine (T) at amino acid position 1141 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255792 SCV001432406 likely benign Cobblestone lissencephaly without muscular or ocular involvement no assertion criteria provided clinical testing

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