Submissions for variant NM_001164508.2(NEB):c.8A>G (p.Asp3Gly)

gnomAD frequency: 0.00001  dbSNP: rs1245236784

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001323594	SCV001514517	uncertain significance	Nemaline myopathy 2	2023-10-03	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3 of the NEB protein (p.Asp3Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with nemaline myopathy (PMID: 25205138). ClinVar contains an entry for this variant (Variation ID: 1023531). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
CeGaT Center for Human Genetics Tuebingen	RCV001815998	SCV002063901	uncertain significance	not provided	2021-10-01	criteria provided, single submitter	clinical testing