ClinVar Miner

Submissions for variant NM_015909.4(NBAS):c.7048G>A (p.Val2350Met)

gnomAD frequency: 0.00012  dbSNP: rs138592420
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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 RCV002011912 SCV002223278 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563496 SCV003715027 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.7048G>A (p.V2350M) alteration is located in exon 52 (coding exon 52) of the NBAS gene. This alteration results from a G to A substitution at nucleotide position 7048, causing the valine (V) at amino acid position 2350 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV002011912 SCV005411622 uncertain significance not provided 2024-07-23 criteria provided, single submitter clinical testing BP4_moderate

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