ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9854G>A (p.Arg3285His)

gnomAD frequency: 0.00011  dbSNP: rs376932516
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508088 SCV001714009 uncertain significance not provided 2020-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002564231 SCV003020742 uncertain significance Nemaline myopathy 2 2024-12-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 3285 of the NEB protein (p.Arg3285His). This variant is present in population databases (rs376932516, gnomAD 0.02%). 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: 1163218). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002564230 SCV003725523 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.9125G>A (p.R3042H) alteration is located in exon 66 (coding exon 64) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 9125, causing the arginine (R) at amino acid position 3042 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001508088 SCV003810300 uncertain significance not provided 2019-05-03 criteria provided, single submitter clinical testing

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