ClinVar Miner

Submissions for variant NM_022047.4(DEF6):c.316G>C (p.Asp106His)

gnomAD frequency: 0.00007  dbSNP: rs202091466
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002081463 SCV002421855 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046425 SCV003715921 uncertain significance not specified 2021-12-21 criteria provided, single submitter clinical testing The c.316G>C (p.D106H) alteration is located in exon 3 (coding exon 3) of the DEF6 gene. This alteration results from a G to C substitution at nucleotide position 316, causing the aspartic acid (D) at amino acid position 106 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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