ClinVar Miner

Submissions for variant NM_006610.4(MASP2):c.2053G>A (p.Asp685Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004416559 SCV004904474 likely benign not specified 2022-03-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004755037 SCV005353349 uncertain significance MASP2-related disorder 2024-09-28 no assertion criteria provided clinical testing The MASP2 c.2053G>A variant is predicted to result in the amino acid substitution p.Asp685Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.26% of alleles in individuals of African descent in gnomAD. 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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