ClinVar Miner

Submissions for variant NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu)

gnomAD frequency: 0.00007  dbSNP: rs143562102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000373660 SCV000363067 uncertain significance Mannose-binding lectin deficiency 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003417972 SCV004117313 uncertain significance MBL2-related disorder 2023-07-12 criteria provided, single submitter clinical testing The MBL2 c.302C>T variant is predicted to result in the amino acid substitution p.Pro101Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-54530432-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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