ClinVar Miner

Submissions for variant NM_003325.4(HIRA):c.1118G>A (p.Arg373His)

gnomAD frequency: 0.00016  dbSNP: rs150603624
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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 RCV000897884 SCV001042056 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028479 SCV003703486 uncertain significance not specified 2021-10-18 criteria provided, single submitter clinical testing The c.1118G>A (p.R373H) alteration is located in exon 12 (coding exon 12) of the HIRA gene. This alteration results from a G to A substitution at nucleotide position 1118, causing the arginine (R) at amino acid position 373 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000897884 SCV005208929 likely benign not provided criteria provided, single submitter not provided

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