ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.508G>A (p.Ala170Thr)

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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 RCV003269979 SCV003946828 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.508G>A (p.A170T) alteration is located in exon 6 (coding exon 6) of the GRIP1 gene. This alteration results from a G to A substitution at nucleotide position 508, causing the alanine (A) at amino acid position 170 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003044 SCV005629119 uncertain significance Fraser syndrome 3 2024-03-26 criteria provided, single submitter clinical testing

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