Submissions for variant NM_001164508.2(NEB):c.8221C>T (p.Pro2741Ser)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003072888	SCV003472708	uncertain significance	Nemaline myopathy 2	2023-11-16	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2741 of the NEB protein (p.Pro2741Ser). This variant is present in population databases (no rsID available, 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: 2159575). 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.
PreventionGenetics, part of Exact Sciences	RCV004550388	SCV004118708	uncertain significance	NEB-related disorder	2023-01-27	criteria provided, single submitter	clinical testing	The NEB c.8221C>T variant is predicted to result in the amino acid substitution p.Pro2741Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-152499323-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.