ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22696-1G>C (rs757157808)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665581 SCV000789727 likely pathogenic Nemaline myopathy 2 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000665581 SCV001223052 pathogenic Nemaline myopathy 2 2019-07-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 155 of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs757157808, ExAC 0.01%). This variant has been observed in an individual with clinical features of nemaline myopathy (Invitae). In that individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550749). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.

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