ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.371T>C (p.Ile124Thr)

gnomAD frequency: 0.00024  dbSNP: rs200657079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334418 SCV001527263 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2018-04-11 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 RCV002546682 SCV003494663 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 124 of the LAMA1 protein (p.Ile124Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs200657079, ExAC 0.01%). This variant has not been reported in the literature in individuals with LAMA1-related conditions. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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