ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr)

gnomAD frequency: 0.00001  dbSNP: rs1186136318
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330165 SCV001521777 uncertain significance Intellectual disability, X-linked 99 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546374 SCV003582713 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.986A>C (p.K329T) alteration is located in exon 8 (coding exon 7) of the USP9X gene. This alteration results from a A to C substitution at nucleotide position 986, causing the lysine (K) at amino acid position 329 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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