ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24398_24400dup (p.Ile8133dup) (rs780724946)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666544 SCV000790850 uncertain significance Nemaline myopathy 2 2017-04-12 criteria provided, single submitter clinical testing
Invitae RCV000666544 SCV001420479 uncertain significance Nemaline myopathy 2 2019-02-25 criteria provided, single submitter clinical testing This variant, c.24398_24400dup, results in the insertion of 1 amino acid to the NEB protein (p.Ile8133dup), 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 ExAC database. This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 551475). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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