ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.5090G>T (p.Arg1697Leu)

gnomAD frequency: 0.00191  dbSNP: rs145318018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000308368 SCV000336667 benign not specified 2015-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000893877 SCV001037838 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518910 SCV003548021 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.5090G>T (p.R1697L) alteration is located in exon 42 (coding exon 42) of the NBAS gene. This alteration results from a G to T substitution at nucleotide position 5090, causing the arginine (R) at amino acid position 1697 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003920074 SCV004737290 benign NBAS-related disorder 2019-06-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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