ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.77C>A (p.Ser26Tyr)

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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 RCV002915094 SCV003646945 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.77C>A (p.S26Y) alteration is located in exon 2 (coding exon 2) of the GRIP1 gene. This alteration results from a C to A substitution at nucleotide position 77, causing the serine (S) at amino acid position 26 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005011156 SCV005629139 uncertain significance Fraser syndrome 3 2024-01-11 criteria provided, single submitter clinical testing

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