ClinVar Miner

Submissions for variant NM_003638.3(ITGA8):c.1156T>C (p.Phe386Leu)

gnomAD frequency: 0.00011  dbSNP: rs147384918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334156 SCV001526924 uncertain significance Renal hypodysplasia/aplasia 1 2018-08-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004988551 SCV005599342 uncertain significance Inborn genetic diseases 2024-08-07 criteria provided, single submitter clinical testing The c.1156T>C (p.F386L) alteration is located in exon 12 (coding exon 12) of the ITGA8 gene. This alteration results from a T to C substitution at nucleotide position 1156, causing the phenylalanine (F) at amino acid position 386 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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