ClinVar Miner

Submissions for variant NM_020759.3(STARD9):c.2954A>G (p.His985Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004809343 SCV005433935 likely benign not provided 2024-12-01 criteria provided, single submitter clinical testing STARD9: BP4
Ambry Genetics RCV004858037 SCV005506716 uncertain significance not specified 2024-11-28 criteria provided, single submitter clinical testing The c.2954A>G (p.H985R) alteration is located in exon 23 (coding exon 23) of the STARD9 gene. This alteration results from a A to G substitution at nucleotide position 2954, causing the histidine (H) at amino acid position 985 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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