ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr)

gnomAD frequency: 0.00004  dbSNP: rs563173814
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001306740 SCV001496121 uncertain significance Nemaline myopathy 2 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 8449 of the NEB protein (p.Ala8449Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1009275). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004034108 SCV004979395 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.19672G>A (p.A6558T) alteration is located in exon 148 (coding exon 146) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 19672, causing the alanine (A) at amino acid position 6558 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001306740 SCV002083934 uncertain significance Nemaline myopathy 2 2020-02-26 no assertion criteria provided clinical testing

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