ClinVar Miner

Submissions for variant NM_020925.4(CACHD1):c.293G>A (p.Arg98His)

gnomAD frequency: 0.00022  dbSNP: rs201614737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002524943 SCV003711210 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.140G>A (p.R47H) alteration is located in exon 3 (coding exon 3) of the CACHD1 gene. This alteration results from a G to A substitution at nucleotide position 140, causing the arginine (R) at amino acid position 47 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV000509162 SCV000607190 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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