ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr)

gnomAD frequency: 0.00049  dbSNP: rs199717686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986589 SCV001135616 likely pathogenic Infantile liver failure syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001572745 SCV002149564 likely benign not provided 2025-01-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702553 SCV005205389 uncertain significance not specified 2024-06-03 criteria provided, single submitter clinical testing Variant summary: NBAS c.5465A>C (p.Asn1822Thr) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00043 in 251006 control chromosomes in the gnomAD database, including 1 homozygote. This frequency is not significantly higher than estimated for a pathogenic variant in NBAS causing Liver Failure Acute Infantile, Type 2 (0.00043 vs 0.0011), allowing no conclusion about variant significance. c.5465A>C has been reported in the literature in individuals affected with Liver Failure Acute Infantile, Type 2 (e.g., Nazmi_2021). However, this report does not provide convincing conclusions about association of the variant with Liver Failure Acute Infantile, Type 2. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication was ascertained in the context of this evaluation (PMID: 34396667). ClinVar contains an entry for this variant (Variation ID: 801650). Based on the evidence outlined above, the variant was classified as uncertain significance.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572745 SCV001797575 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572745 SCV001975985 uncertain significance not provided no assertion criteria provided clinical testing

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