ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3446C>T (p.Pro1149Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002582638 SCV002933231 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1149 of the LAMA1 protein (p.Pro1149Leu). This variant is present in population databases (rs764502367, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LAMA1-related conditions.
Ambry Genetics RCV004064375 SCV004894195 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.3446C>T (p.P1149L) alteration is located in exon 24 (coding exon 24) of the LAMA1 gene. This alteration results from a C to T substitution at nucleotide position 3446, causing the proline (P) at amino acid position 1149 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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