ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.3554A>C (p.Glu1185Ala)

gnomAD frequency: 0.00084  dbSNP: rs200875393
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001509859 SCV001716758 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001509859 SCV003798511 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003405695 SCV004114215 uncertain significance CARMIL2-related disorder 2023-05-30 criteria provided, single submitter clinical testing The CARMIL2 c.3554A>C variant is predicted to result in the amino acid substitution p.Glu1185Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.36% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-67688567-A-C), which may be too common to be causative of disease. 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.
Breakthrough Genomics, Breakthrough Genomics RCV001509859 SCV005249150 benign not provided criteria provided, single submitter not provided

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