ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1608-1G>A

dbSNP: rs2125846068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001526480 SCV001736901 pathogenic Nemaline myopathy 8 2021-04-27 criteria provided, single submitter research ACMG codes:PVS1; PS4; PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV001526480 SCV002231254 pathogenic Nemaline myopathy 8 2021-04-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with clinical features of congenital myopathy (PMID: 23746549, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 4 of the KLHL40 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in KLHL40 are known to be pathogenic (PMID: 23746549).

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