ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3617C>T (p.Ala1206Val)

dbSNP: rs372946104
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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 RCV002047691 SCV002294081 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing 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 valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with LAMA1-related conditions. This variant is present in population databases (rs372946104, ExAC 0.02%). This sequence change replaces alanine with valine at codon 1206 of the LAMA1 protein (p.Ala1206Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. 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.
PreventionGenetics, part of Exact Sciences RCV004553628 SCV004116203 uncertain significance LAMA1-related disorder 2023-08-02 criteria provided, single submitter clinical testing The LAMA1 c.3617C>T variant is predicted to result in the amino acid substitution p.Ala1206Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.049% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-7011369-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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