ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7171G>T (p.Ala2391Ser)

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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 RCV002586763 SCV002948577 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2391 of the LAMA1 protein (p.Ala2391Ser). This variant is present in population databases (rs192340222, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1906240). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt LAMA1 protein function with a negative predictive value of 80%. 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 RCV004064505 SCV004895549 uncertain significance Inborn genetic diseases 2023-11-13 criteria provided, single submitter clinical testing The c.7171G>T (p.A2391S) alteration is located in exon 50 (coding exon 50) of the LAMA1 gene. This alteration results from a G to T substitution at nucleotide position 7171, causing the alanine (A) at amino acid position 2391 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002586763 SCV005328274 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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