ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.2239G>T (p.Gly747Cys)

dbSNP: rs145940188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV003482753 SCV004229761 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.
Ambry Genetics RCV005353186 SCV006018260 uncertain significance Inborn genetic diseases 2025-01-29 criteria provided, single submitter clinical testing The c.2239G>T (p.G747C) alteration is located in exon 16 (coding exon 16) of the LAMA2 gene. This alteration results from a G to T substitution at nucleotide position 2239, causing the glycine (G) at amino acid position 747 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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