ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.1872G>T (p.Leu624Phe) (rs775430225)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000261581 SCV000332287 uncertain significance not provided 2015-06-17 criteria provided, single submitter clinical testing
Invitae RCV000527789 SCV000640629 uncertain significance Nemaline myopathy 2 2017-05-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 624 of the NEB protein (p.Leu624Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs775430225, ExAC 0.001%) but has not been reported in the literature in individuals with an NEB-related disease. Clinvar contains an entry for this variant (Variation ID: 281485). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000527789 SCV001457257 uncertain significance Nemaline myopathy 2 2019-12-30 no assertion criteria provided clinical testing

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