ClinVar Miner

Submissions for variant NM_002204.4(ITGA3):c.902C>T (p.Ser301Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003152170 SCV003840601 uncertain significance not provided 2022-09-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV004246172 SCV004889483 uncertain significance Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing The c.902C>T (p.S301L) alteration is located in exon 6 (coding exon 6) of the ITGA3 gene. This alteration results from a C to T substitution at nucleotide position 902, causing the serine (S) at amino acid position 301 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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