ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr)

gnomAD frequency: 0.00009  dbSNP: rs746008098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803127 SCV000942988 uncertain significance Nemaline myopathy 2 2025-01-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 4067 of the NEB protein (p.Ile4067Thr). This variant is present in population databases (rs746008098, gnomAD 0.009%). 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: 648408). 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 RCV004028135 SCV004978135 uncertain significance Inborn genetic diseases 2023-09-29 criteria provided, single submitter clinical testing The c.11471T>C (p.I3824T) alteration is located in exon 78 (coding exon 76) of the NEB gene. This alteration results from a T to C substitution at nucleotide position 11471, causing the isoleucine (I) at amino acid position 3824 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000803127 SCV002077052 uncertain significance Nemaline myopathy 2 2020-02-21 no assertion criteria provided clinical testing

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