ClinVar Miner

Submissions for variant NM_002356.7(MARCKS):c.616_632del (p.Glu206fs)

dbSNP: rs1554191995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624102 SCV000742192 likely pathogenic Inborn genetic diseases 2020-06-04 criteria provided, single submitter clinical testing This alteration results in an elongated protein: The c.616_632del17 (p.E206Rfs*130) alteration, located in coding exon 2 of the MARCKS gene, results from a deletion of 17 nucleotides from position 616 to 632, causing a translational frameshift with a predicted alternate stop codon. Frameshifts are typically deleterious in nature; however, this frameshift occurs at the 3' terminus of MARCKS, is not expected to trigger nonsense-mediated mRNA decay, and an altered mutant protein could still be expressed (Maquat, 2004). This frameshift changes the remaining 127 amino acids of the protein and elongates the protein by 2 amino acids. The exact functional impact of these altered amino acids is unknown at this time. This alteration is located in a functionally important protein domain: The p.E206RFS*130 amino acid starts in an observed calmodulin binding region, which is known be required for MARCKS protein function (Naim, 1992; Hartwig, 1992; Gallant, 2005). Based on the available evidence, this alteration is classified as likely pathogenic.

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