ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg)

gnomAD frequency: 0.00010  dbSNP: rs373892420
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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 RCV000706923 SCV000835998 uncertain significance Nemaline myopathy 2 2024-12-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 877 of the NEB protein (p.Gln877Arg). This variant is present in population databases (rs373892420, gnomAD 0.05%). 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: 582770). 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.
Revvity Omics, Revvity RCV003133571 SCV003810319 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004649292 SCV005144912 uncertain significance Inborn genetic diseases 2024-04-19 criteria provided, single submitter clinical testing The c.2630A>G (p.Q877R) alteration is located in exon 27 (coding exon 25) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 2630, causing the glutamine (Q) at amino acid position 877 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000706923 SCV001452182 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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