ClinVar Miner

Submissions for variant NM_001105206.3(LAMA4):c.2402C>T (p.Thr801Met)

gnomAD frequency: 0.00004  dbSNP: rs782325644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651433 SCV000773284 uncertain significance Dilated cardiomyopathy 1JJ 2022-02-04 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 methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 541219). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. This variant is present in population databases (rs782325644, gnomAD 0.005%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 794 of the LAMA4 protein (p.Thr794Met).
Ambry Genetics RCV002458142 SCV002737044 uncertain significance Cardiovascular phenotype 2024-08-05 criteria provided, single submitter clinical testing The c.2381C>T (p.T794M) alteration is located in exon 19 (coding exon 18) of the LAMA4 gene. This alteration results from a C to T substitution at nucleotide position 2381, causing the threonine (T) at amino acid position 794 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000651433 SCV002791467 uncertain significance Dilated cardiomyopathy 1JJ 2021-07-26 criteria provided, single submitter clinical testing

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