Submissions for variant NM_001164508.2(NEB):c.2211+5G>A

dbSNP: rs797045736

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000671466	SCV000796442	uncertain significance	Nemaline myopathy 2	2017-12-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000671466	SCV000816770	pathogenic	Nemaline myopathy 2	2023-12-09	criteria provided, single submitter	clinical testing	This sequence change falls in intron 23 of the NEB gene. It does not directly change the encoded amino acid sequence of the NEB protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with nemaline myopathy (PMID: 21724397; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 555613). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity	RCV001784269	SCV002017924	likely pathogenic	not provided	2020-02-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001784269	SCV004147020	uncertain significance	not provided	2022-09-01	criteria provided, single submitter	clinical testing	NEB: PM2, BP4
Baylor Genetics	RCV003472138	SCV004200171	likely pathogenic	Arthrogryposis multiplex congenita 6	2024-01-02	criteria provided, single submitter	clinical testing