ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)

gnomAD frequency: 0.00002  dbSNP: rs375182306
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802186 SCV000942004 benign Nemaline myopathy 2 2023-12-25 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000802186 SCV001984169 uncertain significance Nemaline myopathy 2 2019-12-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141800 SCV003814117 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702429 SCV005202492 uncertain significance not specified 2024-07-12 criteria provided, single submitter clinical testing Variant summary: NEB c.19325G>A (p.Arg6442Gln) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0001 in 248858 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in NEB causing Nemaline Myopathy 2 (0.0001 vs 0.0035), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.19325G>A in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 647634). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000802186 SCV001461661 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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