ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys)

gnomAD frequency: 0.00001  dbSNP: rs767886794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270745 SCV001451494 uncertain significance Nemaline myopathy 2 2020-07-29 criteria provided, single submitter clinical testing The NEB c.20155G>A (p.Glu6719Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Glu6719Lys variant is reported at a frequency of 0.000186 in the European (Finnish) population in the Genome Aggregation Database. Missense variants are not the common mechanism of disease but have been reported in the literature. Based on the limited evidence, the p.Glu6719Lys variant is classified as a variant of uncertain significance for nemaline myopathy.
Labcorp Genetics (formerly Invitae), Labcorp RCV001270745 SCV003494222 likely benign Nemaline myopathy 2 2024-01-04 criteria provided, single submitter clinical testing

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