ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.2483G>A (p.Ser828Asn)

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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 RCV002804510 SCV003598004 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.2483G>A (p.S828N) alteration is located in exon 22 (coding exon 22) of the PHIP gene. This alteration results from a G to A substitution at nucleotide position 2483, causing the serine (S) at amino acid position 828 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135240 SCV003812838 uncertain significance PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2022-07-26 criteria provided, single submitter clinical testing

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