ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr)

gnomAD frequency: 0.00003  dbSNP: rs775823432
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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 RCV000809120 SCV000949261 uncertain significance Nemaline myopathy 2 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 8554 of the NEB protein (p.Ala8554Thr). This variant is present in population databases (rs775823432, gnomAD 0.004%). 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: 653358). 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.
GeneDx RCV001772090 SCV001994236 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002537304 SCV003687910 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.19987G>A (p.A6663T) alteration is located in exon 150 (coding exon 148) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 19987, causing the alanine (A) at amino acid position 6663 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000809120 SCV002083924 uncertain significance Nemaline myopathy 2 2020-02-26 no assertion criteria provided clinical testing

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