ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.1967C>T (p.Ala656Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004982470 SCV005593498 uncertain significance Inborn genetic diseases 2024-11-27 criteria provided, single submitter clinical testing The c.1967C>T (p.A656V) alteration is located in exon 16 (coding exon 16) of the GFM1 gene. This alteration results from a C to T substitution at nucleotide position 1967, causing the alanine (A) at amino acid position 656 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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