ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val)

gnomAD frequency: 0.00002  dbSNP: rs374581669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686160 SCV000813664 uncertain significance Nemaline myopathy 2 2022-10-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 7516 of the NEB protein (p.Ile7516Val). This variant is present in population databases (rs374581669, gnomAD 0.007%). 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: 566369). 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"). 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.
Fulgent Genetics, Fulgent Genetics RCV002485598 SCV002787298 uncertain significance Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372802 SCV004081863 uncertain significance Inborn genetic diseases 2023-08-22 criteria provided, single submitter clinical testing The c.17338A>G (p.I5780V) alteration is located in exon 126 (coding exon 124) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 17338, causing the isoleucine (I) at amino acid position 5780 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000686160 SCV001456476 uncertain significance Nemaline myopathy 2 2020-01-11 no assertion criteria provided clinical testing

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