ClinVar Miner

Submissions for variant NM_004736.4(XPR1):c.2023G>A (p.Ala675Thr)

gnomAD frequency: 0.00023  dbSNP: rs139314192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900356 SCV001044671 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000900356 SCV001827526 benign not provided 2019-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537535 SCV003683660 uncertain significance Inborn genetic diseases 2022-06-29 criteria provided, single submitter clinical testing The c.2023G>A (p.A675T) alteration is located in exon 14 (coding exon 14) of the XPR1 gene. This alteration results from a G to A substitution at nucleotide position 2023, causing the alanine (A) at amino acid position 675 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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