Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593096 | SCV000708471 | uncertain significance | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002532632 | SCV003597321 | uncertain significance | Inborn genetic diseases | 2022-06-09 | criteria provided, single submitter | clinical testing | The c.1963C>G (p.P655A) alteration is located in exon 16 (coding exon 15) of the ABCB4 gene. This alteration results from a C to G substitution at nucleotide position 1963, causing the proline (P) at amino acid position 655 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV004530717 | SCV004114482 | uncertain significance | ABCB4-related disorder | 2023-08-24 | criteria provided, single submitter | clinical testing | The ABCB4 c.1963C>G variant is predicted to result in the amino acid substitution p.Pro655Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-87056167-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |