ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1963C>G (p.Pro655Ala)

dbSNP: rs550563139
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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.
PreventionGenetics, part of Exact Sciences 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.

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