ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.6444C>G (p.Asn2148Lys)

gnomAD frequency: 0.00001  dbSNP: rs747665736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003363952 SCV004071615 uncertain significance Inborn genetic diseases 2023-07-19 criteria provided, single submitter clinical testing The c.6444C>G (p.N2148K) alteration is located in exon 42 (coding exon 42) of the CUBN gene. This alteration results from a C to G substitution at nucleotide position 6444, causing the asparagine (N) at amino acid position 2148 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036759 SCV005673506 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2024-06-20 criteria provided, single submitter clinical testing

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