ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu)

gnomAD frequency: 0.00019  dbSNP: rs766153965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591785 SCV000708143 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764589 SCV000895684 uncertain significance Frank-Ter Haar syndrome 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024825 SCV004948446 uncertain significance Inborn genetic diseases 2022-05-16 criteria provided, single submitter clinical testing The c.2189C>T (p.P730L) alteration is located in exon 13 (coding exon 13) of the SH3PXD2B gene. This alteration results from a C to T substitution at nucleotide position 2189, causing the proline (P) at amino acid position 730 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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