ClinVar Miner

Submissions for variant NM_007327.4(GRIN1):c.614C>T (p.Thr205Met)

gnomAD frequency: 0.00003  dbSNP: rs201592328
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472824 SCV000541371 benign Intellectual disability, autosomal dominant 8 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV001696870 SCV000725370 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522758 SCV003563250 uncertain significance Inborn genetic diseases 2022-06-10 criteria provided, single submitter clinical testing The c.614C>T (p.T205M) alteration is located in exon 4 (coding exon 4) of the GRIN1 gene. This alteration results from a C to T substitution at nucleotide position 614, causing the threonine (T) at amino acid position 205 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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