ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)

gnomAD frequency: 0.00162  dbSNP: rs143933602
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248083 SCV000307401 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725702 SCV000338739 uncertain significance not provided 2016-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000725702 SCV000523700 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080324 SCV000640888 likely benign Nemaline myopathy 2 2025-01-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000248083 SCV002766159 uncertain significance not specified 2024-09-27 criteria provided, single submitter clinical testing Variant summary: NEB c.9071C>T (p.Ala3024Val) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0012 in 246034 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in NEB causing Nemaline Myopathy 2 (0.0012 vs 0.0035), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.9071C>T 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: 257836). Based on the evidence outlined above, the variant was classified as uncertain significance.
CeGaT Center for Human Genetics Tuebingen RCV000725702 SCV004154153 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing NEB: BP4
Natera, Inc. RCV001080324 SCV001454968 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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