ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.1619C>T (p.Pro540Leu)

gnomAD frequency: 0.00041  dbSNP: rs140908403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332622 SCV001525001 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2019-12-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865760 SCV002131013 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 540 of the LAMA1 protein (p.Pro540Leu). This variant is present in population databases (rs140908403, gnomAD 0.1%). 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: 1030928). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002546584 SCV003684192 uncertain significance Inborn genetic diseases 2022-06-17 criteria provided, single submitter clinical testing The c.1619C>T (p.P540L) alteration is located in exon 12 (coding exon 12) of the LAMA1 gene. This alteration results from a C to T substitution at nucleotide position 1619, causing the proline (P) at amino acid position 540 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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