ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu)

gnomAD frequency: 0.00003  dbSNP: rs759261311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531322 SCV000640741 uncertain significance Nemaline myopathy 2 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 8135 of the NEB protein (p.Ser8135Leu). This variant is present in population databases (rs759261311, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 465580). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354064 SCV001548585 uncertain significance not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000531322 SCV002083973 uncertain significance Nemaline myopathy 2 2021-02-09 no assertion criteria provided clinical testing

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