ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.3130_3147dup (p.Ile1044_Asp1049dup)

dbSNP: rs377177611
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000519816 SCV000711951 benign not specified 2016-05-21 criteria provided, single submitter clinical testing c.3130_3147dup in exon 2 of MYO15A: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence, r esults in an in-frame duplication of 6 amino acids, and has been identified in 1 .5% (145/9686) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs377177611, rs775957610).
GeneDx RCV001534812 SCV001751775 likely benign not provided 2020-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001534812 SCV003249718 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This variant, c.3130_3147dup, results in the insertion of 6 amino acid(s) of the MYO15A protein (p.Ile1044_Asp1049dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MYO15A-related conditions. ClinVar contains an entry for this variant (Variation ID: 449948). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000519816 SCV000618432 likely benign not specified 2018-03-05 flagged submission clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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