ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu)

gnomAD frequency: 0.00001  dbSNP: rs537769519
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177784 SCV000229715 uncertain significance not provided 2014-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000795712 SCV000935182 likely benign Nemaline myopathy 2 2024-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516754 SCV003736697 uncertain significance Inborn genetic diseases 2022-07-27 criteria provided, single submitter clinical testing The c.3721G>T (p.V1241L) alteration is located in exon 34 (coding exon 32) of the NEB gene. This alteration results from a G to T substitution at nucleotide position 3721, causing the valine (V) at amino acid position 1241 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000177784 SCV005690351 uncertain significance not provided 2024-08-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000795712 SCV002077731 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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