ClinVar Miner

Submissions for variant NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu)

gnomAD frequency: 0.00003  dbSNP: rs368616652
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725377 SCV000336465 uncertain significance not provided 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000725377 SCV000528790 uncertain significance not provided 2016-07-05 criteria provided, single submitter clinical testing The S385L variant has not been published asa pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with anysignificant frequency in approximately 6,200 individuals of European and African American ancestry in the NHLBIExome Sequencing Project. The S385L variant is a non-conservative amino acid substitution, which is likely toimpact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However,this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions asto whether or not the variant is damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001054931 SCV001219290 uncertain significance Myopathy, centronuclear, 2 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 385 of the BIN1 protein (p.Ser385Leu). This variant is present in population databases (rs368616652, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with BIN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 284019). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV001054931 SCV003829892 uncertain significance Myopathy, centronuclear, 2 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021147 SCV004911927 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.1154C>T (p.S385L) alteration is located in exon 13 (coding exon 13) of the BIN1 gene. This alteration results from a C to T substitution at nucleotide position 1154, causing the serine (S) at amino acid position 385 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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