ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.1739C>T (p.Ser580Phe)

gnomAD frequency: 0.00044  dbSNP: rs115072194
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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 RCV002110821 SCV002439637 benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400338 SCV002713841 likely benign Inborn genetic diseases 2020-03-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003418388 SCV004115212 uncertain significance NEFH-related disorder 2023-04-18 criteria provided, single submitter clinical testing The NEFH c.1739C>T variant is predicted to result in the amino acid substitution p.Ser580Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-29885368-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV002110821 SCV005273947 benign not provided criteria provided, single submitter not provided

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