ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu)

gnomAD frequency: 0.00005  dbSNP: rs573693040
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243571 SCV001416739 likely benign Nemaline myopathy 2 2024-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001552770 SCV001773524 uncertain significance not provided 2021-06-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 26582918)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526096 SCV005039346 uncertain significance not specified 2024-03-13 criteria provided, single submitter clinical testing Variant summary: NEB c.10589A>T (p.Gln3530Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 247480 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.10589A>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: 968438). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001243571 SCV002077113 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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