ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19117A>T (p.Asn6373Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004961519 SCV005451846 uncertain significance Inborn genetic diseases 2024-07-16 criteria provided, single submitter clinical testing The c.14014A>T (p.N4672Y) alteration is located in exon 96 (coding exon 94) of the NEB gene. This alteration results from a A to T substitution at nucleotide position 14014, causing the asparagine (N) at amino acid position 4672 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061493 SCV005711335 uncertain significance Nemaline myopathy 2 2024-05-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 6373 of the NEB protein (p.Asn6373Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEB-related conditions. 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.

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