ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.8989G>A (p.Ala2997Thr)

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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 RCV002685976 SCV002994540 uncertain significance not provided 2022-04-08 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with LAMA1-related conditions. This variant is present in population databases (rs777813445, gnomAD 0.008%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2997 of the LAMA1 protein (p.Ala2997Thr).
Ambry Genetics RCV004632050 SCV005137237 uncertain significance Inborn genetic diseases 2024-04-16 criteria provided, single submitter clinical testing The c.8989G>A (p.A2997T) alteration is located in exon 62 (coding exon 62) of the LAMA1 gene. This alteration results from a G to A substitution at nucleotide position 8989, causing the alanine (A) at amino acid position 2997 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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