ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr)

gnomAD frequency: 0.00017  dbSNP: rs573292460
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415756 SCV000493315 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001277804 SCV002780193 uncertain significance Primary hyperoxaluria type 3 2022-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521472 SCV003680378 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.106G>A (p.A36T) alteration is located in exon 1 (coding exon 1) of the HOGA1 gene. This alteration results from a G to A substitution at nucleotide position 106, causing the alanine (A) at amino acid position 36 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277804 SCV001464776 uncertain significance Primary hyperoxaluria type 3 2020-04-11 no assertion criteria provided clinical testing

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