Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000294006 | SCV000344633 | uncertain significance | not provided | 2016-08-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002518116 | SCV003740620 | uncertain significance | Inborn genetic diseases | 2022-10-04 | criteria provided, single submitter | clinical testing | The c.910G>T (p.A304S) alteration is located in exon 9 (coding exon 8) of the ABCB4 gene. This alteration results from a G to T substitution at nucleotide position 910, causing the alanine (A) at amino acid position 304 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV004543135 | SCV004779479 | uncertain significance | ABCB4-related disorder | 2024-01-01 | criteria provided, single submitter | clinical testing | The ABCB4 c.910G>T variant is predicted to result in the amino acid substitution p.Ala304Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of Latino descent in gnomAD. An alternate nucleotide change affecting the same amino acid (p.Ala304Asp) has been reported along with a second ABCB4 variant in an individual with intrahepatic cholestasis (Table S4, patient 11, Hertel et al. 2021. PubMed ID: 34016879). At this time, the clinical significance of the c.910G>T (p.Ala304Ser) variant is uncertain due to the absence of conclusive functional and genetic evidence. |