ClinVar Miner

Submissions for variant NM_012398.3(PIP5K1C):c.1148T>C (p.Val383Ala)

dbSNP: rs1489575349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Medical Genetics, Mumbai RCV000855749 SCV000965606 likely benign Lethal congenital contracture syndrome 3 2019-08-14 criteria provided, single submitter clinical testing The variant was incidentally identified in an individual on clinical exome sequencing for indication of previous baby with ichthyosis.
Ambry Genetics RCV002536206 SCV003587577 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.1148T>C (p.V383A) alteration is located in exon 9 (coding exon 9) of the PIP5K1C gene. This alteration results from a T to C substitution at nucleotide position 1148, causing the valine (V) at amino acid position 383 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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