ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4835G>A (p.Arg1612His)

gnomAD frequency: 0.00003  dbSNP: rs534531948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000288893 SCV000345526 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859724 SCV002200544 benign Nemaline myopathy 2 2024-01-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343747 SCV004066226 uncertain significance Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.4835G>A (p.R1612H) alteration is located in exon 41 (coding exon 39) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 4835, causing the arginine (R) at amino acid position 1612 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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