ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu)

gnomAD frequency: 0.00004  dbSNP: rs541908352
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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 RCV001048655 SCV001212669 uncertain significance Nemaline myopathy 2 2022-06-15 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 8197 of the NEB protein (p.Ser8197Leu). 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: 845565). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Revvity Omics, Revvity RCV003132174 SCV003811522 uncertain significance not provided 2021-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001048655 SCV001459164 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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