ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly)

gnomAD frequency: 0.00198  dbSNP: rs55824996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247413 SCV000303081 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000955854 SCV001102587 benign not provided 2024-07-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000247413 SCV002765972 uncertain significance not specified 2022-11-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000247413 SCV001554379 benign not specified no assertion criteria provided clinical testing The LAMB3 p.Asp111Gly variant was not identified in the literature but was identified in dbSNP (ID: rs55824996), ClinVar (classified as likely benign by Prevention Genetics and benign by Invitae), and LOVD 3.0 (variant effect not shared). The variant was identified in control databases in 188 of 281174 chromosomes (2 homozygous) at a frequency of 0.0006686 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database March 6, 2019, v2.1.1). The variant was observed in the following populations: African in 181 of 24632 chromosomes (freq: 0.007348), Latino in 6 of 35264 chromosomes (freq: 0.00017) and European (non-Finnish) in 1 of 128524 chromosomes (freq: 0.000008), but was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), Other, or South Asian populations. The p.Asp111 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information this variant meets our laboratory's criteria to be classified as benign.

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