ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys)

gnomAD frequency: 0.00017  dbSNP: rs770023115
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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 RCV000810320 SCV000950514 benign Nemaline myopathy 2 2024-02-19 criteria provided, single submitter clinical testing
GeneDx RCV002285415 SCV002575959 likely benign not provided 2019-02-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Revvity Omics, Revvity RCV002285415 SCV003810149 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800599 SCV005422376 uncertain significance not specified 2024-10-11 criteria provided, single submitter clinical testing Variant summary: NEB c.24201T>G (p.Asn8067Lys) 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 4.9e-05 in 143952 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.24201T>G 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: 654368). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV000810320 SCV001454439 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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