ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln)

gnomAD frequency: 0.00015  dbSNP: rs142912342
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336738 SCV001530205 uncertain significance Amelogenesis imperfecta type 1A 2018-10-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002493732 SCV002778950 uncertain significance Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2021-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035813 SCV004894311 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.2963G>A (p.R988Q) alteration is located in exon 20 (coding exon 19) of the LAMB3 gene. This alteration results from a G to A substitution at nucleotide position 2963, causing the arginine (R) at amino acid position 988 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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