ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)

gnomAD frequency: 0.00003  dbSNP: rs149331388
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714711 SCV000845437 uncertain significance Familial hyperinsulinism 2024-02-12 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245627 SCV002513500 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs149331388) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002245628 SCV002513502 uncertain significance Transitory neonatal diabetes mellitus criteria provided, single submitter research Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant (rs149331388) in neonatal diabetes yet.
Mendelics RCV002249434 SCV002516820 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534528 SCV003535620 uncertain significance Inborn genetic diseases 2021-01-06 criteria provided, single submitter clinical testing The c.4051G>A (p.V1351M) alteration is located in exon 33 (coding exon 33) of the ABCC8 gene. This alteration results from a G to A substitution at nucleotide position 4051, causing the valine (V) at amino acid position 1351 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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