ClinVar Miner

Submissions for variant NM_153747.2(PIGC):c.70T>C (p.Phe24Leu)

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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 RCV004094607 SCV003562519 uncertain significance not specified 2021-07-09 criteria provided, single submitter clinical testing The c.70T>C (p.F24L) alteration is located in exon 2 (coding exon 1) of the PIGC gene. This alteration results from a T to C substitution at nucleotide position 70, causing the phenylalanine (F) at amino acid position 24 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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