Submissions for variant NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu)

gnomAD frequency: 0.00001  dbSNP: rs765207403

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001067562	SCV001232629	uncertain significance	Nemaline myopathy 2	2023-12-18	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2846 of the NEB protein (p.Pro2846Leu). This variant is present in population databases (rs765207403, gnomAD 0.003%). 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: 861118). 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	RCV003130146	SCV003810240	uncertain significance	not provided	2019-12-02	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001067562	SCV002079619	uncertain significance	Nemaline myopathy 2	2021-07-27	no assertion criteria provided	clinical testing