ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr)

gnomAD frequency: 0.00002  dbSNP: rs944276562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813417 SCV000953776 uncertain significance Nemaline myopathy 2 2024-08-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1164 of the NEB protein (p.Ser1164Tyr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 656897). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000813417 SCV002077738 uncertain significance Nemaline myopathy 2 2020-09-30 no assertion criteria provided clinical testing

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